Materiały źródłowe

• #1 Homocystinuria/Homocysteinemia: Overview, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1952251-overview

  Homocystinuria is a disorder of methionine metabolism, leading to an abnormal accumulation of homocysteine and its metabolites (homocystine, homocysteine-cysteine complex, and others) in blood and urine. Homocystinuria is an autosomal recessively inherited defect in the transsulfuration pathway (homocystinuria I) or methylation pathway (homocystinuria II and III). […] Early diagnosis and intervention have helped in preventing some of the complications of homocystinuria, including ectopia lentis, intellectual disability, and thromboembolic events. […] Patients with classic homocystinuria may first be recognized because of downward dislocation of the lens (ectopia lentis), marfanoid habitus, intellectual disability, and/or seizures. […] The oral health of 14 patients with homozygote cystathionine beta synthase-deficient homocystinuria was evaluated in a Swedish study and found to be compromised in a majority of cases.

• #2 Homocystinuria/Homocysteinemia: Overview, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1115062-treatment

  Homocystinuria is a disorder of methionine metabolism, leading to an abnormal accumulation of homocysteine and its metabolites (homocystine, homocysteine-cysteine complex, and others) in blood and urine. […] Early diagnosis and intervention have helped in preventing some of the complications of homocystinuria, including ectopia lentis, intellectual disability, and thromboembolic events. […] Patients with classic homocystinuria may first be recognized because of downward dislocation of the lens (ectopia lentis), marfanoid habitus, intellectual disability, and/or seizures. […] The oral health of 14 patients with homozygote cystathionine beta synthase-deficient homocystinuria was evaluated in a Swedish study and found to be compromised in a majority of cases. […] If pyridoxine alone is not effective, folic acid and vitamin B12 can be added to the regimen.

• #3 Homocystinuria (HCY)

  https://www.wadsworth.org/node/2592/printable/print

  Homocystinuria is inherited in an autosomal recessive pattern. […] Treatment usually includes a low protein diet and the oral medication, betaine. Vitamin B6 responsive homocystinuria is also treated with pyridoxine. Surgery may be needed for the dislocation of the lens (ectopia lentis). […] Patients with an abnormal newborn screen for homocystinuria are referred to an Inherited Metabolic Disorder Specialty Care Center for evaluation by a biochemical geneticist trained in the diagnosis and treatment of homocystinuria.

• #4 FloridaHealthFinder | Homocystinuria | Health Encyclopedia | FloridaHealthFinder

  https://quality.healthfinder.fl.gov/health-encyclopedia/HIE/1/001199

  Homocystinuria is a genetic disorder that affects the metabolism of the amino acid methionine. […] There is no cure for homocystinuria. About half of people with the disease respond to vitamin B6 (also known as pyridoxine). […] Those who do not respond to supplements will need to eat a low-methionine diet. Most will need to be treated with trimethylglycine (a medicine also known as betaine). […] Medicine and diet should be closely monitored by a doctor who has experience treating homocystinuria. […] If the diagnosis is made in childhood, starting a low-methionine diet quickly may prevent some intellectual disability and other complications of the disease. […] Contact your provider if you or a family member shows symptoms of this disorder, especially if you have a family history of homocystinuria. […] Genetic counseling is recommended for people with a family history of homocystinuria who want to have children.

• #5 Role of Homocystinuria in Newborns and Individualized Treatment Plans for a Lifelong Condition

  https://www.walshmedicalmedia.com/open-access/role-of-homocystinuria-in-newborns-and-individualized-treatment-plans-for-a-lifelong-condition-123690.html

  Newborn screening of homocystinuria have revolutionized pediatric healthcare by enabling the early detection of rare, yet potentially devastating, genetic conditions. […] Homocystinuria is an inherited metabolic disorder that, if left untreated, can lead to severe health issues and developmental challenges. […] Without early intervention, homocystinuria can have a profound impact on a child’s health and development. […] Early diagnosis of homocystinuria is important because prompt treatment can prevent or mitigate many of the disorder’s complications. […] Newborn screening for homocystinuria is a critical tool in preventing the devastating consequences of this disorder. […] Early detection through newborn screening allows for immediate intervention, which can significantly improve the long-term outlook for individuals with homocystinuria.

• #6 Homocystinuria – ThinkGenetic Foundation

  https://thinkgenetic.org/diseases/homocystinuria/

  Some people with homocystinuria have intellectual problems and some of them do not. There is no way to know if someone will have an intellectual disability. There is no way to prevent it. Early treatment can reduce the risk. It is important for the individual with homocystinuria to be started on treatment as soon as possible. Talk to a doctor about treatment options available for homocystinuria. A medical geneticist is the type of doctor who treats homocystinuria. […] A medical geneticist, genetic counselor, dietician, and ophthalmologist (eye doctor) should be part of your medical team. Medical geneticists are doctors with special training in genetics. They can diagnose and treat homocystinuria. They will work with a dietician to help affected people plan the best diet. Other medical specialists may be needed to treat certain symptoms. An ophthalmologist treats eye problems that are sometimes seen in homocystinuria. A genetic counselor is trained in genetics and can assist in genetic testing and counseling.

• #7 Homocystinuria (HCU) – Metabolic

  https://metabolic.ie/patient-family-information/metabolic-conditions/homocystinuria-hcu/

  Homocystinuria (HCU) is a rare genetic disorder present from birth. In HCU, the body is unable to break down an amino acid called methionine. This causes a build up of methionine and another amino acid called homocysteine in the eyes, brain, bones and blood vessels and can cause problems when untreated. […] Patients with HCU are managed by the multidisciplinary team and we liaise closely with the Metabolic Laboratory to ensure close and frequent monitoring of these patients. We follow international best practise guidelines in managing our patients with HCU. […] The aim is to keep blood methionine and homocysteine levels within a specific target range.

• #8 Homocystinuria – UF Health

  https://ufhealth.org/conditions-and-treatments/homocystinuria

  There is no cure for homocystinuria. About half of people with the disease respond to vitamin B6 (also known as pyridoxine). […] Those who do respond will need to take vitamin B6, B9 (folate), and B12 supplements for the rest of their lives. Those who do not respond to supplements will need to eat a low-methionine diet. Most will need to be treated with trimethylglycine (a medicine also known as betaine). […] Medicine and diet should be closely monitored by a doctor who has experience treating homocystinuria.

• #9 Rare Disease Spotlight: Homocystinuria (HCU)

  https://pentechealth.com/newsroom/rare-disease-spotlight-homocystinuria-hcu/

  The aim of treatments is to keep the bodys level of homocysteine below 100 mcmol/L at all times of day as this can prevent further complications relating to HCU. […] Alongside vitamin B6 treatment, diet regulation to ensure low levels of protein are eaten is crucial in managing HCU. […] ZOIA provides low protein foods as well as other vital nutritional products, such as metabolic formulas, from trusted specialist manufacturers including eTon Pharmaceuticals, Firstplay Dietary Foods (Promin), Vitaflo, Abbott, and Nutricia. […] HCU is a rare condition, but that doesnt make the treatment or patients any less important. Patients deserve a reliable provider that is able to meet their needs, and thats why we have remained committed to the rare diseases community with a dedicated team providing a combined 20 years of experience.

• #10 Rare Disease Spotlight: Homocystinuria (HCU)

  https://pentechealth.com/newsroom/rare-disease-spotlight-homocystinuria-hcu/

  The aim of treatments is to keep the bodys level of homocysteine below 100 mcmol/L at all times of day as this can prevent further complications relating to HCU. […] Alongside vitamin B6 treatment, diet regulation to ensure low levels of protein are eaten is crucial in managing HCU. […] ZOIA provides low protein foods as well as other vital nutritional products, such as metabolic formulas, from trusted specialist manufacturers including eTon Pharmaceuticals, Firstplay Dietary Foods (Promin), Vitaflo, Abbott, and Nutricia. […] HCU is a rare condition, but that doesnt make the treatment or patients any less important. Patients deserve a reliable provider that is able to meet their needs, and thats why we have remained committed to the rare diseases community with a dedicated team providing a combined 20 years of experience.

• #11 Homocystinuria – Metabolic Support UKAccessibility ToolsIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://metabolicsupportuk.org/condition/homocystinuria/

  HCU is managed with the following special diet: […] In babies, a restricted amount of methionine (protein) is given from breast milk or measured amounts of infant formula. The amount given will be monitored regularly by your specialist metabolic dietitian. Protein substitute is essential for metabolic control. […] Damage can be prevented with a protein restricted diet and a protein substitute. […] With early management normal development is achievable. This should also prevent long term complications such as osteoporosis (thin bones), blood clots and strokes. […] Frequent blood tests to check homocysteine, methionine and cystine […] Diet and medications are adjusted according to age, weight and blood chemical levels.

• #12 Homocystinuria – Metabolic Support UKAccessibility ToolsIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://metabolicsupportuk.org/condition/homocystinuria/

  HCU is managed with the following special diet: […] In babies, a restricted amount of methionine (protein) is given from breast milk or measured amounts of infant formula. The amount given will be monitored regularly by your specialist metabolic dietitian. Protein substitute is essential for metabolic control. […] Damage can be prevented with a protein restricted diet and a protein substitute. […] With early management normal development is achievable. This should also prevent long term complications such as osteoporosis (thin bones), blood clots and strokes. […] Frequent blood tests to check homocysteine, methionine and cystine […] Diet and medications are adjusted according to age, weight and blood chemical levels.

• #13

  https://www.gov.uk/government/publications/hcu-suspected-description-in-brief/hcu-suspected

  This information is for parents if their baby is suspected of having HCU or has been diagnosed with HCU following their newborn blood spot screening test (heel prick test). It will help you and your health professionals to talk through the next stages of your babys care. […] If your baby does have HCU, the metabolic team will explain the condition in more detail and answer any questions you might have. They will start your baby on medical treatment and a special diet, and they will arrange regular follow-up appointments. Following the diet and treatment instructions is very important for your babys health. […] The metabolic team will be happy to discuss any queries you might have.

• #14

  https://www.gov.uk/government/publications/hcu-suspected-description-in-brief/hcu-suspected

  This information is for parents if their baby is suspected of having HCU or has been diagnosed with HCU following their newborn blood spot screening test (heel prick test). It will help you and your health professionals to talk through the next stages of your babys care. […] If your baby does have HCU, the metabolic team will explain the condition in more detail and answer any questions you might have. They will start your baby on medical treatment and a special diet, and they will arrange regular follow-up appointments. Following the diet and treatment instructions is very important for your babys health. […] The metabolic team will be happy to discuss any queries you might have.

• #15 Homocystinuria – UF Health

  https://ufhealth.org/conditions-and-treatments/homocystinuria

  There is no cure for homocystinuria. About half of people with the disease respond to vitamin B6 (also known as pyridoxine). […] Those who do respond will need to take vitamin B6, B9 (folate), and B12 supplements for the rest of their lives. Those who do not respond to supplements will need to eat a low-methionine diet. Most will need to be treated with trimethylglycine (a medicine also known as betaine). […] Medicine and diet should be closely monitored by a doctor who has experience treating homocystinuria.

• #16 FloridaHealthFinder | Homocystinuria | Health Encyclopedia | FloridaHealthFinder

  https://quality.healthfinder.fl.gov/health-encyclopedia/HIE/1/001199

  Homocystinuria is a genetic disorder that affects the metabolism of the amino acid methionine. […] There is no cure for homocystinuria. About half of people with the disease respond to vitamin B6 (also known as pyridoxine). […] Those who do not respond to supplements will need to eat a low-methionine diet. Most will need to be treated with trimethylglycine (a medicine also known as betaine). […] Medicine and diet should be closely monitored by a doctor who has experience treating homocystinuria. […] If the diagnosis is made in childhood, starting a low-methionine diet quickly may prevent some intellectual disability and other complications of the disease. […] Contact your provider if you or a family member shows symptoms of this disorder, especially if you have a family history of homocystinuria. […] Genetic counseling is recommended for people with a family history of homocystinuria who want to have children.

• #17 Homocystinuria

  https://www.nhs.uk/conditions/homocystinuria/

  Homocystinuria (HCU) is a rare but potentially serious inherited condition. […] If HCU is diagnosed, treatment can be given to reduce the risk of serious complications. Treatment may include trial doses of vitamin B6 (pyridoxine), a special diet and advice. […] With early diagnosis and the correct treatment, the majority of children with HCU are able to live healthy lives. However, treatment for HCU must be continued for life. […] Children diagnosed with HCU that doesn’t respond to vitamin B6 are referred to a specialist metabolic dietitian and given a low-protein diet. This is tailored to reduce the amount of methionine your baby receives. […] Your dietitian will provide detailed advice and guidance, as your baby still needs some of these foods for healthy growth and development. […] People with HCU may need to follow a modified diet for the rest of their life. As your child gets older, they’ll eventually need to learn how to control their diet and stay in contact with a dietitian for advice and monitoring.

• #18 Homocystinuria/Homocysteinemia: Overview, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1952251-overview

  If homocystinuria is suspected on the basis of history, physical examination, and family history, the patient may be transferred to a tertiary care center, where expertise in a variety of relevant fields is more likely to be available. […] Pyridoxine, at a dose of 100-500 mg/d, is the drug of choice. Patients may be divided into pyridoxine-sensitive and pyridoxine-insensitive groups. In the first group, pyridoxine, folic acid, and vitamin B12 are prescribed. These three vitamins, in combination, reduce the homocysteine levels as well as provide clinical benefit. […] Measuring homocystine levels can be used to monitor the effectiveness of treatment. If pyridoxine alone is not effective, folic acid and vitamin B12 can be added to the regimen. […] If patients are pyridoxine insensitive, a low-methionine diet initiated at diagnosis, along with betaine supplementation, may help reduce homocysteine levels.

• #19 Homocystinuria: Challenges in diagnosis and management

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2830775/

  Two patients with homocystinuria are discussed. […] The management of patients with homocystinuria continues to pose a challenge to physicians and care givers. […] The diagnosis of classic homocystinuria was conclusively established with the confirmation of cystathionine beta-synthase deficiency in cultured fibroblasts. The patient began pyridoxine 500 mg once a day, folic acid 5 mg once a day and a low methionine diet. […] The patient remains severely affected by homocystinuria, and requires constant supervision to perform activities of daily living and infant care tasks. […] Delayed diagnosis of homocystinuria decreases the likelihood of optimal developmental outcome, and leads to an increased risk of systemic consequences. […] Earlier case detection, along with the introduction of a low methionine diet and pyridoxine supplements, is associated with a better prognosis, thus providing evidence for including the detection of homocystinuria in the newborn screening programs.

• #20 Homocystinuria (HCU): Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/25160-homocystinuria

  Homocystinuria treatment involves managing your symptoms by controlling the homocysteine levels in your blood. Treatment usually includes taking a vitamin B6 supplement. If you have vitamin B6-responsive classical homocystinuria, vitamin B6 supplementation may be enough to reduce and control your homocysteine levels. […] If you have vitamin B6-non-responsive or partially vitamin B6-responsive classical homocystinuria, then vitamin B6 supplements won’t be enough. You’ll need additional treatment options, including: […] A medication called betaine (cystadane): Betaine can help lower the levels of homocysteine in your blood. […] A special diet for homocystinuria: You may have to stay on a diet that restricts your protein and methionine intake. […] Additional supplements: If you have another type of homocystinuria, you may need to take folate (vitamin B9) or cobalamin (vitamin B12) supplements.

• #21 Homocystinuria

  https://www.nhs.uk/conditions/homocystinuria/

  Homocystinuria (HCU) is a rare but potentially serious inherited condition. […] If HCU is diagnosed, treatment can be given to reduce the risk of serious complications. Treatment may include trial doses of vitamin B6 (pyridoxine), a special diet and advice. […] With early diagnosis and the correct treatment, the majority of children with HCU are able to live healthy lives. However, treatment for HCU must be continued for life. […] Children diagnosed with HCU that doesn’t respond to vitamin B6 are referred to a specialist metabolic dietitian and given a low-protein diet. This is tailored to reduce the amount of methionine your baby receives. […] Your dietitian will provide detailed advice and guidance, as your baby still needs some of these foods for healthy growth and development. […] People with HCU may need to follow a modified diet for the rest of their life. As your child gets older, they’ll eventually need to learn how to control their diet and stay in contact with a dietitian for advice and monitoring.

• #22 Homocystinuria (HCU): Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/25160-homocystinuria

  Homocystinuria treatment involves managing your symptoms by controlling the homocysteine levels in your blood. Treatment usually includes taking a vitamin B6 supplement. If you have vitamin B6-responsive classical homocystinuria, vitamin B6 supplementation may be enough to reduce and control your homocysteine levels. […] If you have vitamin B6-non-responsive or partially vitamin B6-responsive classical homocystinuria, then vitamin B6 supplements won’t be enough. You’ll need additional treatment options, including: […] A medication called betaine (cystadane): Betaine can help lower the levels of homocysteine in your blood. […] A special diet for homocystinuria: You may have to stay on a diet that restricts your protein and methionine intake. […] Additional supplements: If you have another type of homocystinuria, you may need to take folate (vitamin B9) or cobalamin (vitamin B12) supplements.

• #23 Homocystinuria

  https://www.nhs.uk/conditions/homocystinuria/

  Regular blood tests will also be needed to monitor the amount of homocysteine in their blood. […] Alongside a low-protein diet, your child may be prescribed a medicine called betaine in later childhood to help clear some of the excess homocysteine. […] Medicine for HCU needs to be taken regularly, as directed by your doctor.

• #24 FloridaHealthFinder | Homocystinuria | Health Encyclopedia | FloridaHealthFinder

  https://quality.healthfinder.fl.gov/health-encyclopedia/HIE/1/001199

  Homocystinuria is a genetic disorder that affects the metabolism of the amino acid methionine. […] There is no cure for homocystinuria. About half of people with the disease respond to vitamin B6 (also known as pyridoxine). […] Those who do not respond to supplements will need to eat a low-methionine diet. Most will need to be treated with trimethylglycine (a medicine also known as betaine). […] Medicine and diet should be closely monitored by a doctor who has experience treating homocystinuria. […] If the diagnosis is made in childhood, starting a low-methionine diet quickly may prevent some intellectual disability and other complications of the disease. […] Contact your provider if you or a family member shows symptoms of this disorder, especially if you have a family history of homocystinuria. […] Genetic counseling is recommended for people with a family history of homocystinuria who want to have children.

• #25 Homocystinuria (HCU): Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/25160-homocystinuria

  Homocystinuria treatment involves managing your symptoms by controlling the homocysteine levels in your blood. Treatment usually includes taking a vitamin B6 supplement. If you have vitamin B6-responsive classical homocystinuria, vitamin B6 supplementation may be enough to reduce and control your homocysteine levels. […] If you have vitamin B6-non-responsive or partially vitamin B6-responsive classical homocystinuria, then vitamin B6 supplements won’t be enough. You’ll need additional treatment options, including: […] A medication called betaine (cystadane): Betaine can help lower the levels of homocysteine in your blood. […] A special diet for homocystinuria: You may have to stay on a diet that restricts your protein and methionine intake. […] Additional supplements: If you have another type of homocystinuria, you may need to take folate (vitamin B9) or cobalamin (vitamin B12) supplements.

• #26 Homocystinuria – UF Health

  https://ufhealth.org/conditions-and-treatments/homocystinuria

  There is no cure for homocystinuria. About half of people with the disease respond to vitamin B6 (also known as pyridoxine). […] Those who do respond will need to take vitamin B6, B9 (folate), and B12 supplements for the rest of their lives. Those who do not respond to supplements will need to eat a low-methionine diet. Most will need to be treated with trimethylglycine (a medicine also known as betaine). […] Medicine and diet should be closely monitored by a doctor who has experience treating homocystinuria.

• #27 Classical homocystinuria – Genomics Education Programme

  http://www.genomicseducation.hee.nhs.uk/documents/classical-homocystinuria/

  Management of HCU aims to correct biochemical abnormalities, primarily to control the elevated plasma total homocysteine concentrations. […] Pyridoxine therapy is used in patients shown to be responsive, and may also be included in the treatment of those with evidence of non-responsiveness. […] Dietary treatment involves a methionine-restricted diet. This is typically managed by a specialist metabolic dietician, and monitored on the basis of plasma total homocysteine and methionine. […] Folate and vitamin B12 supplementation may be used to aid the conversion of homocysteine to methionine. Betaine therapy may also be instituted in patients with poor adherence to dietary treatment.

• #28 Homocystinuria: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001199.htm

  Homocystinuria is a genetic disorder that affects the metabolism of the amino acid methionine. […] There is no cure for homocystinuria. About half of people with the disease respond to vitamin B6 (also known as pyridoxine). […] Those who do respond will need to take vitamin B6, B9 (folate), and B12 supplements for the rest of their lives. […] Those who do not respond to supplements will need to eat a low-methionine diet. […] Medicine and diet should be closely monitored by a doctor who has experience treating homocystinuria. […] If the diagnosis is made in childhood, starting a low-methionine diet quickly may prevent some intellectual disability and other complications of the disease. […] Contact your provider if you or a family member shows symptoms of this disorder, especially if you have a family history of homocystinuria. […] Genetic counseling is recommended for people with a family history of homocystinuria who want to have children.

• #29 Managing Homocysteine with FSMPs: A Comprehensive Approach

  https://invimeds.com/updates/all-about-homocystinuria-and-role-of-fsmp-in-homocystinuria/

  Homocystinuria patients are advised to incorporate Foods for Special Medical Purposes (FSMPs) into their diet regimen when appropriate, as part of a comprehensive strategy to manage their condition. These specialized products are carefully formulated to restrict high-protein foods, especially those abundant in methionine, which can exacerbate the accumulation of homocysteine in the bloodstream. FSMP for homocystinuria includes, […] These specialized formulations are intended to promote healthy growth and development while mitigating the buildup of homocysteine in the blood. […] Continuing lifelong management is essential for individuals with HCU. Medical formulas constitute a vital aspect of their dietary regimen, serving as a cornerstone in their care. These formulas utilize individual amino acids as a protein source, intentionally omitting methionine to prevent adverse effects.

• #30 Managing Homocysteine with FSMPs: A Comprehensive Approach

  https://invimeds.com/updates/all-about-homocystinuria-and-role-of-fsmp-in-homocystinuria/

  By supplying crucial nutrients like calories, vitamins, and minerals, medical formulas foster normal growth in HCU patients while ensuring safe protein consumption. Seeking guidance from a healthcare provider before making any dietary adjustments or introducing FSMPs is imperative. Tailored recommendations are essential, accounting for factors such as condition severity and treatment response.

• #31 Homocystinuria/Homocysteinemia: Overview, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1952251-overview

  If homocystinuria is suspected on the basis of history, physical examination, and family history, the patient may be transferred to a tertiary care center, where expertise in a variety of relevant fields is more likely to be available. […] Pyridoxine, at a dose of 100-500 mg/d, is the drug of choice. Patients may be divided into pyridoxine-sensitive and pyridoxine-insensitive groups. In the first group, pyridoxine, folic acid, and vitamin B12 are prescribed. These three vitamins, in combination, reduce the homocysteine levels as well as provide clinical benefit. […] Measuring homocystine levels can be used to monitor the effectiveness of treatment. If pyridoxine alone is not effective, folic acid and vitamin B12 can be added to the regimen. […] If patients are pyridoxine insensitive, a low-methionine diet initiated at diagnosis, along with betaine supplementation, may help reduce homocysteine levels.

• #32 Homocystinuria

  https://www.nhs.uk/conditions/homocystinuria/

  Regular blood tests will also be needed to monitor the amount of homocysteine in their blood. […] Alongside a low-protein diet, your child may be prescribed a medicine called betaine in later childhood to help clear some of the excess homocysteine. […] Medicine for HCU needs to be taken regularly, as directed by your doctor.

• #33 Homocystinuria (HCU)

  https://mdda.org.au/diagnosis/homocystinuria/

  To treat homocystinuria, doctors restrict foods high in natural protein and provide L-amino acids and conditionally essential amino acids to maintain plasma total homocysteine levels as close to normal as possible. […] Avoiding catabolism and metabolic decompensation is very important with administration of pyridoxine (vitamin B6) and vitamin B12 injections. […] For the remainder, the current mainstay of treatment is a strict low protein diet coupled with supplementation with B6, B12, folate, and Betaine together with a medical formula. This treatment regime aides in the restoration of metabolic balance in the affected individual.

• #34 Homocystinuria

  https://www.nhs.uk/conditions/homocystinuria/

  Regular blood tests will also be needed to monitor the amount of homocysteine in their blood. […] Alongside a low-protein diet, your child may be prescribed a medicine called betaine in later childhood to help clear some of the excess homocysteine. […] Medicine for HCU needs to be taken regularly, as directed by your doctor.

• #35 FloridaHealthFinder | Homocystinuria | Health Encyclopedia | FloridaHealthFinder

  https://quality.healthfinder.fl.gov/health-encyclopedia/HIE/1/001199

  Homocystinuria is a genetic disorder that affects the metabolism of the amino acid methionine. […] There is no cure for homocystinuria. About half of people with the disease respond to vitamin B6 (also known as pyridoxine). […] Those who do not respond to supplements will need to eat a low-methionine diet. Most will need to be treated with trimethylglycine (a medicine also known as betaine). […] Medicine and diet should be closely monitored by a doctor who has experience treating homocystinuria. […] If the diagnosis is made in childhood, starting a low-methionine diet quickly may prevent some intellectual disability and other complications of the disease. […] Contact your provider if you or a family member shows symptoms of this disorder, especially if you have a family history of homocystinuria. […] Genetic counseling is recommended for people with a family history of homocystinuria who want to have children.

• #36 Homocystinuria (HCU): Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/25160-homocystinuria

  Homocystinuria treatment involves managing your symptoms by controlling the homocysteine levels in your blood. Treatment usually includes taking a vitamin B6 supplement. If you have vitamin B6-responsive classical homocystinuria, vitamin B6 supplementation may be enough to reduce and control your homocysteine levels. […] If you have vitamin B6-non-responsive or partially vitamin B6-responsive classical homocystinuria, then vitamin B6 supplements won’t be enough. You’ll need additional treatment options, including: […] A medication called betaine (cystadane): Betaine can help lower the levels of homocysteine in your blood. […] A special diet for homocystinuria: You may have to stay on a diet that restricts your protein and methionine intake. […] Additional supplements: If you have another type of homocystinuria, you may need to take folate (vitamin B9) or cobalamin (vitamin B12) supplements.

• #37 Homocystinuria

  https://www.nhs.uk/conditions/homocystinuria/

  Homocystinuria (HCU) is a rare but potentially serious inherited condition. […] If HCU is diagnosed, treatment can be given to reduce the risk of serious complications. Treatment may include trial doses of vitamin B6 (pyridoxine), a special diet and advice. […] With early diagnosis and the correct treatment, the majority of children with HCU are able to live healthy lives. However, treatment for HCU must be continued for life. […] Children diagnosed with HCU that doesn’t respond to vitamin B6 are referred to a specialist metabolic dietitian and given a low-protein diet. This is tailored to reduce the amount of methionine your baby receives. […] Your dietitian will provide detailed advice and guidance, as your baby still needs some of these foods for healthy growth and development. […] People with HCU may need to follow a modified diet for the rest of their life. As your child gets older, they’ll eventually need to learn how to control their diet and stay in contact with a dietitian for advice and monitoring.

• #38 Homocystinuria

  https://www.nhs.uk/conditions/homocystinuria/

  Homocystinuria (HCU) is a rare but potentially serious inherited condition. […] If HCU is diagnosed, treatment can be given to reduce the risk of serious complications. Treatment may include trial doses of vitamin B6 (pyridoxine), a special diet and advice. […] With early diagnosis and the correct treatment, the majority of children with HCU are able to live healthy lives. However, treatment for HCU must be continued for life. […] Children diagnosed with HCU that doesn’t respond to vitamin B6 are referred to a specialist metabolic dietitian and given a low-protein diet. This is tailored to reduce the amount of methionine your baby receives. […] Your dietitian will provide detailed advice and guidance, as your baby still needs some of these foods for healthy growth and development. […] People with HCU may need to follow a modified diet for the rest of their life. As your child gets older, they’ll eventually need to learn how to control their diet and stay in contact with a dietitian for advice and monitoring.

• #39 Homocystinuria

  https://www.nhs.uk/conditions/homocystinuria/

  Homocystinuria (HCU) is a rare but potentially serious inherited condition. […] If HCU is diagnosed, treatment can be given to reduce the risk of serious complications. Treatment may include trial doses of vitamin B6 (pyridoxine), a special diet and advice. […] With early diagnosis and the correct treatment, the majority of children with HCU are able to live healthy lives. However, treatment for HCU must be continued for life. […] Children diagnosed with HCU that doesn’t respond to vitamin B6 are referred to a specialist metabolic dietitian and given a low-protein diet. This is tailored to reduce the amount of methionine your baby receives. […] Your dietitian will provide detailed advice and guidance, as your baby still needs some of these foods for healthy growth and development. […] People with HCU may need to follow a modified diet for the rest of their life. As your child gets older, they’ll eventually need to learn how to control their diet and stay in contact with a dietitian for advice and monitoring.

• #40 Homocystinuria – Metabolic Support UKAccessibility ToolsIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://metabolicsupportuk.org/condition/homocystinuria/

  HCU is managed with the following special diet: […] In babies, a restricted amount of methionine (protein) is given from breast milk or measured amounts of infant formula. The amount given will be monitored regularly by your specialist metabolic dietitian. Protein substitute is essential for metabolic control. […] Damage can be prevented with a protein restricted diet and a protein substitute. […] With early management normal development is achievable. This should also prevent long term complications such as osteoporosis (thin bones), blood clots and strokes. […] Frequent blood tests to check homocysteine, methionine and cystine […] Diet and medications are adjusted according to age, weight and blood chemical levels.

• #41 Homocystinuria – Metabolic Support UKAccessibility ToolsIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://metabolicsupportuk.org/condition/homocystinuria/

  HCU is managed with the following special diet: […] In babies, a restricted amount of methionine (protein) is given from breast milk or measured amounts of infant formula. The amount given will be monitored regularly by your specialist metabolic dietitian. Protein substitute is essential for metabolic control. […] Damage can be prevented with a protein restricted diet and a protein substitute. […] With early management normal development is achievable. This should also prevent long term complications such as osteoporosis (thin bones), blood clots and strokes. […] Frequent blood tests to check homocysteine, methionine and cystine […] Diet and medications are adjusted according to age, weight and blood chemical levels.

• #42 Homocystinuria | Newborn Screening

  https://newbornscreening.hrsa.gov/conditions/homocystinuria

  You should complete any recommended follow-up testing as soon as possible. Babies with this condition can have serious health problems if they are not diagnosed and treated quickly. […] It is important to talk to your health care provider about which treatment(s) are best for your baby. The goal of treatment is to prevent the health problems caused by this condition. […] Treatments may include the following: Diet low in protein (specifically methionine), Special formulas and foods, Vitamin B-6, betaine, folic acid, or other vitamin supplements in some cases of homocystinuria. […] Children who receive early and ongoing treatment for homocystinuria can have healthy growth and development. Treatment is very important for lowering the chance of blood clots and eye and heart problems.

• #43 Pentec Health – Homocystinuria

  https://pentechealth.com/homocystinuria/

  Homocystinuria (HCU) is a rare genetic disorder that affects the bodys ability to process the amino acid methionine, leading to a harmful buildup of homocysteine in a persons blood or urine. […] Lifelong treatment includes adhering to a special diet low in methionine, taking special medical foods to ensure adequate essential protein intake, vitamin supplements (like B6), and sometimes medication. […] We are proud to further support the rare disease community through our partnership with the HCU Network America, which helps patients and their families affected by classical Homocystinuria (HCU), severe Methylenetetrahydrofolate reductase (MTHFR) and cobalamin deficiencies C-X (Cbl) through resources, community connections, advocacy and support. […] Learn how we can help those who require targeted nutrition with medical foods, low protein foods, enteral nutrition, comprehensive insurance support, home delivery services and more.

• #44 Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7945666/

  Most participants (n=67) reported no problems with the availability or affordability of drugs and vitamins but 37 reported problems related to availability (struggle to contact suppliers. Always out of stock; not available in my country), financial burdens (very expensive and the insurance does not cover) or cumbersome administrative and logistic processes. […] The financial burden on some patients was illustrated by the respondents estimate of the monthly additional costs of medications or vitamins to their family to a mean of 231 (median 46; range 0 to 4495). […] A low-methionine diet is recommended for pyridoxine-nonresponsive CBS deficient patients, achieved by severe protein restriction and methionine-free amino acid supplements. […] These patients require close monitoring of their nutritional status and dietary intake.

• #45 Managing Homocysteine with FSMPs: A Comprehensive Approach

  https://invimeds.com/updates/all-about-homocystinuria-and-role-of-fsmp-in-homocystinuria/

  Homocystinuria patients are advised to incorporate Foods for Special Medical Purposes (FSMPs) into their diet regimen when appropriate, as part of a comprehensive strategy to manage their condition. These specialized products are carefully formulated to restrict high-protein foods, especially those abundant in methionine, which can exacerbate the accumulation of homocysteine in the bloodstream. FSMP for homocystinuria includes, […] These specialized formulations are intended to promote healthy growth and development while mitigating the buildup of homocysteine in the blood. […] Continuing lifelong management is essential for individuals with HCU. Medical formulas constitute a vital aspect of their dietary regimen, serving as a cornerstone in their care. These formulas utilize individual amino acids as a protein source, intentionally omitting methionine to prevent adverse effects.

• #46 Managing Homocysteine with FSMPs: A Comprehensive Approach

  https://invimeds.com/updates/all-about-homocystinuria-and-role-of-fsmp-in-homocystinuria/

  By supplying crucial nutrients like calories, vitamins, and minerals, medical formulas foster normal growth in HCU patients while ensuring safe protein consumption. Seeking guidance from a healthcare provider before making any dietary adjustments or introducing FSMPs is imperative. Tailored recommendations are essential, accounting for factors such as condition severity and treatment response.

• #47 Homocystinuria HCU — New England Consortium of Metabolic Programs

  https://www.newenglandconsortium.org/homocystinuria-hcu

  Homocystinuria is a disorder caused by excess of the methionine derived amino acid homocysteine. The defect is in the enzyme responsible for metabolizing homocysteine to compounds that can be excreted in the urine. This enzyme is known as cystathionine b -synthase. Excess homocysteine damages connective tissue leading to problems in the eyes with myopia and lens dislocation, skeletal system (particularly osteoporosis) and cardiovascular system (marked predisposition to atherosclerotic disease). Mental retardation and behavioral problems also occur. […] If your baby has homocystinuria, he or she should stay on a special low methionine diet, or other treatment, throughout life. This will help to prevent or minimize the complications of this condition. […] Homocystinuria is primarily treated by either a low methionine diet, a large amount of vitamin B6 or both. Children with homocystinuria cannot eat as much protein as other children and must have their feeds supplemented with a special methionine-free formula. This diet is very effective at preventing the complications of homocystinuria. Most babies and children get used to this diet. Later on, additional therapies such as the drug betaine may be used.

• #48 Pentec Health – Homocystinuria

  https://pentechealth.com/homocystinuria/

  Homocystinuria (HCU) is a rare genetic disorder that affects the bodys ability to process the amino acid methionine, leading to a harmful buildup of homocysteine in a persons blood or urine. […] Lifelong treatment includes adhering to a special diet low in methionine, taking special medical foods to ensure adequate essential protein intake, vitamin supplements (like B6), and sometimes medication. […] We are proud to further support the rare disease community through our partnership with the HCU Network America, which helps patients and their families affected by classical Homocystinuria (HCU), severe Methylenetetrahydrofolate reductase (MTHFR) and cobalamin deficiencies C-X (Cbl) through resources, community connections, advocacy and support. […] Learn how we can help those who require targeted nutrition with medical foods, low protein foods, enteral nutrition, comprehensive insurance support, home delivery services and more.

• #49 Managing Homocysteine with FSMPs: A Comprehensive Approach

  https://invimeds.com/updates/all-about-homocystinuria-and-role-of-fsmp-in-homocystinuria/

  Homocystinuria patients are advised to incorporate Foods for Special Medical Purposes (FSMPs) into their diet regimen when appropriate, as part of a comprehensive strategy to manage their condition. These specialized products are carefully formulated to restrict high-protein foods, especially those abundant in methionine, which can exacerbate the accumulation of homocysteine in the bloodstream. FSMP for homocystinuria includes, […] These specialized formulations are intended to promote healthy growth and development while mitigating the buildup of homocysteine in the blood. […] Continuing lifelong management is essential for individuals with HCU. Medical formulas constitute a vital aspect of their dietary regimen, serving as a cornerstone in their care. These formulas utilize individual amino acids as a protein source, intentionally omitting methionine to prevent adverse effects.

• #50 Role of Homocystinuria in Newborns and Individualized Treatment Plans for a Lifelong Condition

  https://www.walshmedicalmedia.com/open-access/role-of-homocystinuria-in-newborns-and-individualized-treatment-plans-for-a-lifelong-condition-123690.html

  Newborn screening for homocystinuria offers numerous benefits to affected children and their families. […] Managing homocystinuria often requires strict adherence to a low-methionine diet, which can be challenging for families and individuals. […] Homocystinuria is a lifelong condition, and individuals with the disorder require ongoing monitoring and treatment. […] Newborn screening for homocystinuria is a testament to the power of early detection and intervention in the field of pediatric medicine.

• #51 Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7945666/

  The diagnosis was made by newborn screening in 20% of patients and in 50% of the others within 1 year of the initial symptom but in 12.5% it took over 15 years. […] Physicians need to learn to measure homocysteine concentrations in children with neurodevelopmental problems, and in patients with heterogeneous symptoms such as thromboembolism, dislocation of the optic lens, haemolytic uraemic syndrome, and psychiatric disease. […] Early-onset CBS deficiency usually requires a low-protein diet with amino acid supplements. […] More than a third of the participants reported problems with the availability or cost of treatment. […] Only half of the patients always took their amino acid mixture. […] In contrast, good adherence to the protein restriction was reported in 98% but 80% said it was hard, time-consuming and caused unhappiness.

• #52 Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7945666/

  The diagnosis was made by newborn screening in 20% of patients and in 50% of the others within 1 year of the initial symptom but in 12.5% it took over 15 years. […] Physicians need to learn to measure homocysteine concentrations in children with neurodevelopmental problems, and in patients with heterogeneous symptoms such as thromboembolism, dislocation of the optic lens, haemolytic uraemic syndrome, and psychiatric disease. […] Early-onset CBS deficiency usually requires a low-protein diet with amino acid supplements. […] More than a third of the participants reported problems with the availability or cost of treatment. […] Only half of the patients always took their amino acid mixture. […] In contrast, good adherence to the protein restriction was reported in 98% but 80% said it was hard, time-consuming and caused unhappiness.

• #53 Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7945666/

  The diagnosis was made by newborn screening in 20% of patients and in 50% of the others within 1 year of the initial symptom but in 12.5% it took over 15 years. […] Physicians need to learn to measure homocysteine concentrations in children with neurodevelopmental problems, and in patients with heterogeneous symptoms such as thromboembolism, dislocation of the optic lens, haemolytic uraemic syndrome, and psychiatric disease. […] Early-onset CBS deficiency usually requires a low-protein diet with amino acid supplements. […] More than a third of the participants reported problems with the availability or cost of treatment. […] Only half of the patients always took their amino acid mixture. […] In contrast, good adherence to the protein restriction was reported in 98% but 80% said it was hard, time-consuming and caused unhappiness.

• #54 Homocystinuria

  https://www.nhs.uk/conditions/homocystinuria/

  Homocystinuria (HCU) is a rare but potentially serious inherited condition. […] If HCU is diagnosed, treatment can be given to reduce the risk of serious complications. Treatment may include trial doses of vitamin B6 (pyridoxine), a special diet and advice. […] With early diagnosis and the correct treatment, the majority of children with HCU are able to live healthy lives. However, treatment for HCU must be continued for life. […] Children diagnosed with HCU that doesn’t respond to vitamin B6 are referred to a specialist metabolic dietitian and given a low-protein diet. This is tailored to reduce the amount of methionine your baby receives. […] Your dietitian will provide detailed advice and guidance, as your baby still needs some of these foods for healthy growth and development. […] People with HCU may need to follow a modified diet for the rest of their life. As your child gets older, they’ll eventually need to learn how to control their diet and stay in contact with a dietitian for advice and monitoring.

• #55 Role of Homocystinuria in Newborns and Individualized Treatment Plans for a Lifelong Condition

  https://www.walshmedicalmedia.com/open-access/role-of-homocystinuria-in-newborns-and-individualized-treatment-plans-for-a-lifelong-condition-123690.html

  Newborn screening for homocystinuria offers numerous benefits to affected children and their families. […] Managing homocystinuria often requires strict adherence to a low-methionine diet, which can be challenging for families and individuals. […] Homocystinuria is a lifelong condition, and individuals with the disorder require ongoing monitoring and treatment. […] Newborn screening for homocystinuria is a testament to the power of early detection and intervention in the field of pediatric medicine.

• #56 MCB Homocystinuria — New England Consortium of Metabolic Programs

  https://www.newenglandconsortium.org/mcb-homocystinuria

  Homocystinuria is a rare metabolic condition in which a chemical called CBS does not work correctly in your body. This can cause two chemicals, homocysteine and methionine, to build up in your blood over time. When these build up too much, they can cause serious health problems. You can manage homocystinuria throughout your life with a special low-protein diet, drug therapy with betaine and other medicines, and ongoing health care. […] Follow a low-protein/low-methionine diet recommended by your dietician. […] Take betaine and other medicines recommended by your health care providers. […] Stay in regular contact with your health care providers and health specialists. […] Pregnant women with homocystinuria must follow a careful diet with special guidance from a dietician and health care providers. […] Women with homocystinuria should not use birth control pills that contain estrogen, as these increase the risk of blood clots.

• #57 Homocystinuria – ThinkGenetic Foundation

  https://thinkgenetic.org/diseases/homocystinuria/

  Some people with homocystinuria have intellectual problems and some of them do not. There is no way to know if someone will have an intellectual disability. There is no way to prevent it. Early treatment can reduce the risk. It is important for the individual with homocystinuria to be started on treatment as soon as possible. Talk to a doctor about treatment options available for homocystinuria. A medical geneticist is the type of doctor who treats homocystinuria. […] A medical geneticist, genetic counselor, dietician, and ophthalmologist (eye doctor) should be part of your medical team. Medical geneticists are doctors with special training in genetics. They can diagnose and treat homocystinuria. They will work with a dietician to help affected people plan the best diet. Other medical specialists may be needed to treat certain symptoms. An ophthalmologist treats eye problems that are sometimes seen in homocystinuria. A genetic counselor is trained in genetics and can assist in genetic testing and counseling.

• #58 Homocystinuria

  https://www.nhs.uk/conditions/homocystinuria/

  Regular blood tests will also be needed to monitor the amount of homocysteine in their blood. […] Alongside a low-protein diet, your child may be prescribed a medicine called betaine in later childhood to help clear some of the excess homocysteine. […] Medicine for HCU needs to be taken regularly, as directed by your doctor.

• #59

  https://www.gov.uk/government/publications/hcu-suspected-description-in-brief/homocystinuria-hcu-detailed-information

  This information is for parents if their baby is suspected of having HCU or has been diagnosed with HCU following their newborn blood spot screening test (heel prick test). It will help you and your health professionals to talk through the next stages of your babys care. […] The metabolic team will see you regularly throughout your childs life and your child will remain under their care. Your baby will need regular blood tests to monitor the levels of homocysteine in their blood. […] Following the dietetic instructions is very important for your babys health. […] The metabolic team will be happy to discuss any queries you might have.

• #60 Homocystinuria

  https://www.nhs.uk/conditions/homocystinuria/

  Regular blood tests will also be needed to monitor the amount of homocysteine in their blood. […] Alongside a low-protein diet, your child may be prescribed a medicine called betaine in later childhood to help clear some of the excess homocysteine. […] Medicine for HCU needs to be taken regularly, as directed by your doctor.

• #61 Homocystinuria – Metabolic Support UKAccessibility ToolsIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://metabolicsupportuk.org/condition/homocystinuria/

  HCU is managed with the following special diet: […] In babies, a restricted amount of methionine (protein) is given from breast milk or measured amounts of infant formula. The amount given will be monitored regularly by your specialist metabolic dietitian. Protein substitute is essential for metabolic control. […] Damage can be prevented with a protein restricted diet and a protein substitute. […] With early management normal development is achievable. This should also prevent long term complications such as osteoporosis (thin bones), blood clots and strokes. […] Frequent blood tests to check homocysteine, methionine and cystine […] Diet and medications are adjusted according to age, weight and blood chemical levels.

• #62 Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7945666/

  Most participants (n=67) reported no problems with the availability or affordability of drugs and vitamins but 37 reported problems related to availability (struggle to contact suppliers. Always out of stock; not available in my country), financial burdens (very expensive and the insurance does not cover) or cumbersome administrative and logistic processes. […] The financial burden on some patients was illustrated by the respondents estimate of the monthly additional costs of medications or vitamins to their family to a mean of 231 (median 46; range 0 to 4495). […] A low-methionine diet is recommended for pyridoxine-nonresponsive CBS deficient patients, achieved by severe protein restriction and methionine-free amino acid supplements. […] These patients require close monitoring of their nutritional status and dietary intake.

• #63 Homocystinuria – ThinkGenetic Foundation

  https://thinkgenetic.org/diseases/homocystinuria/

  Starting a low-protein diet as soon as possible is very important. It will help manage the symptoms of homocystinuria. Seeing a dietician is needed to make sure that the low-protein diet is being managed properly. Follow-up with the patient should include blood work to check levels of an amino acid called homocysteine in the blood. High levels of homocysteine cause the symptoms seen in this disorder. Follow-up for symptoms should be handled as needed. Women should avoid hormonal birth control, as it increases the risk for blood clots. Surgery should be avoided as it increases the risk for blood clots to block a blood vessel. Your doctor can arrange your care with a medical geneticist. They specialize in treating genetic disorders like homocystinuria. […] A licensed dietician can help you with a low protein diet. They can make sure that you follow it correctly. Dieticians that work in metabolic clinics have experience with diets needed by people with homocystinuria. To find a metabolic dietitian specializing in diets for people with metabolic conditions, visit the GMDI Find a Metabolic Dietitian webpage.

• #64 Homocystinuria/Homocysteinemia: Overview, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1952251-overview

  Early diagnosis of homocystinuria along with prophylactic medical and dietary care is a key to better long-term prognosis; it can halt or even reverse some of the complications. […] Patients with homocystinuria are prone to thromboembolic events in the perioperative and postoperative periods, even with minor surgeries. Preoperative levels of homocysteine should be reduced to a near normal level. During and after surgery, aggressive hydration and prophylaxis for deep vein thrombosis (DVT) are strongly recommended.

• #65 Homocystinuria/Homocysteinemia: Overview, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1115062-treatment

  Early diagnosis of homocystinuria along with prophylactic medical and dietary care is a key to better long-term prognosis; it can halt or even reverse some of the complications. […] Patients with homocystinuria are prone to thromboembolic events in the perioperative and postoperative periods, even with minor surgeries.

• #66 Homocystinuria/Homocysteinemia: Overview, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1952251-overview

  Early diagnosis of homocystinuria along with prophylactic medical and dietary care is a key to better long-term prognosis; it can halt or even reverse some of the complications. […] Patients with homocystinuria are prone to thromboembolic events in the perioperative and postoperative periods, even with minor surgeries. Preoperative levels of homocysteine should be reduced to a near normal level. During and after surgery, aggressive hydration and prophylaxis for deep vein thrombosis (DVT) are strongly recommended.

• #67 MCB Homocystinuria — New England Consortium of Metabolic Programs

  https://www.newenglandconsortium.org/mcb-homocystinuria

  Homocystinuria is a rare metabolic condition in which a chemical called CBS does not work correctly in your body. This can cause two chemicals, homocysteine and methionine, to build up in your blood over time. When these build up too much, they can cause serious health problems. You can manage homocystinuria throughout your life with a special low-protein diet, drug therapy with betaine and other medicines, and ongoing health care. […] Follow a low-protein/low-methionine diet recommended by your dietician. […] Take betaine and other medicines recommended by your health care providers. […] Stay in regular contact with your health care providers and health specialists. […] Pregnant women with homocystinuria must follow a careful diet with special guidance from a dietician and health care providers. […] Women with homocystinuria should not use birth control pills that contain estrogen, as these increase the risk of blood clots.

• #68 MCB Homocystinuria — New England Consortium of Metabolic Programs

  https://www.newenglandconsortium.org/mcb-homocystinuria

  Homocystinuria is a rare metabolic condition in which a chemical called CBS does not work correctly in your body. This can cause two chemicals, homocysteine and methionine, to build up in your blood over time. When these build up too much, they can cause serious health problems. You can manage homocystinuria throughout your life with a special low-protein diet, drug therapy with betaine and other medicines, and ongoing health care. […] Follow a low-protein/low-methionine diet recommended by your dietician. […] Take betaine and other medicines recommended by your health care providers. […] Stay in regular contact with your health care providers and health specialists. […] Pregnant women with homocystinuria must follow a careful diet with special guidance from a dietician and health care providers. […] Women with homocystinuria should not use birth control pills that contain estrogen, as these increase the risk of blood clots.

• #69 Homocystinuria – ThinkGenetic Foundation

  https://thinkgenetic.org/diseases/homocystinuria/

  Starting a low-protein diet as soon as possible is very important. It will help manage the symptoms of homocystinuria. Seeing a dietician is needed to make sure that the low-protein diet is being managed properly. Follow-up with the patient should include blood work to check levels of an amino acid called homocysteine in the blood. High levels of homocysteine cause the symptoms seen in this disorder. Follow-up for symptoms should be handled as needed. Women should avoid hormonal birth control, as it increases the risk for blood clots. Surgery should be avoided as it increases the risk for blood clots to block a blood vessel. Your doctor can arrange your care with a medical geneticist. They specialize in treating genetic disorders like homocystinuria. […] A licensed dietician can help you with a low protein diet. They can make sure that you follow it correctly. Dieticians that work in metabolic clinics have experience with diets needed by people with homocystinuria. To find a metabolic dietitian specializing in diets for people with metabolic conditions, visit the GMDI Find a Metabolic Dietitian webpage.

• #70 Homocystinuria, CBS-related | Myriad Foresight® Carrier Screen

  https://myriad.com/womens-health/diseases/homocystinuria-cbs-related/

  Homocystinuria can cause problems for many parts of the body. […] Treatment for people with homocystinuria is aimed at keeping the amount of homocysteine in the body low. Doctors will often recommend a diet low in methionine (which can turn into homocysteine in the body), which should be followed for life. […] In order to lower the risk of blood clots, people with the disease should avoid unnecessary surgery. […] It is important that people with homocystinuria be diagnosed as soon as possible. […] Without treatment, life expectancy for people with homocystinuria is often reduced.

• #71 Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7945666/

  There is often a long delay in diagnosing the homocystinurias unless this is achieved by newborn screening; this survey also highlights problems with the availability and cost of treatment and the palatability of protein substitutes. […] The diagnosis was given in person to 66% of patients/parents, by telephone to 23% and in a letter to 1%. […] Only 26% of patients were offered psychological support. […] Most respondents (90%) were extremely, highly or somewhat interested in joining support groups but only 21% were given information about these at the time of diagnosis and only 50% had found a relevant group in their country. […] Care was considered good or excellent by 67% of respondents, average or fair by 29% and only 4% considered it poor. […] Nearly forty percent of participants were extremely (11.1%) or very (27.3%) satisfied with the treatment but 13.1% of patients were very dissatisfied and almost fifty percent considered treatment only partly satisfactory.

• #72 Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7945666/

  There is often a long delay in diagnosing the homocystinurias unless this is achieved by newborn screening; this survey also highlights problems with the availability and cost of treatment and the palatability of protein substitutes. […] The diagnosis was given in person to 66% of patients/parents, by telephone to 23% and in a letter to 1%. […] Only 26% of patients were offered psychological support. […] Most respondents (90%) were extremely, highly or somewhat interested in joining support groups but only 21% were given information about these at the time of diagnosis and only 50% had found a relevant group in their country. […] Care was considered good or excellent by 67% of respondents, average or fair by 29% and only 4% considered it poor. […] Nearly forty percent of participants were extremely (11.1%) or very (27.3%) satisfied with the treatment but 13.1% of patients were very dissatisfied and almost fifty percent considered treatment only partly satisfactory.

• #73 Newborn screening information for homocystinuria | Baby’s First Test | Newborn Screening | Baby Health

  https://www.babysfirsttest.org/newborn-screening/conditions/homocystinuria

  Homocystinuria (HCY) is a condition in which the body is unable to break down certain proteins. […] If homocystinuria is detected early and treatment is begun, children with homocystinuria can often lead healthy lives. […] Your baby may need to be on a restricted diet to avoid foods containing methionine, a substance in proteins, which individuals with homocystinuria (HCY) cannot break down. […] Your baby’s doctor might also recommend special formulas and foods for children with HCY. These formulas will likely need to continue through adulthood. […] With early and ongoing treatment, children with homocystinuria (HCY) can have healthy growth and development. Treatment can reduce the chances for developing blood clots, vision trouble, heart disease, and strokes. […] Support groups can help connect families who have a child or other family member affected with homocystinuria with a supportive community of people who have experience and expertise in living with the condition. […] Work with your baby’s doctor to determine the next steps for your baby’s care. Your baby’s doctor may help you coordinate care with a doctor specializing in metabolism, a dietician who can help plan your child’s specialized diet, and other medical resources in your community.

• #74 FloridaHealthFinder | Homocystinuria | Health Encyclopedia | FloridaHealthFinder

  https://quality.healthfinder.fl.gov/health-encyclopedia/HIE/1/001199

  Homocystinuria is a genetic disorder that affects the metabolism of the amino acid methionine. […] There is no cure for homocystinuria. About half of people with the disease respond to vitamin B6 (also known as pyridoxine). […] Those who do not respond to supplements will need to eat a low-methionine diet. Most will need to be treated with trimethylglycine (a medicine also known as betaine). […] Medicine and diet should be closely monitored by a doctor who has experience treating homocystinuria. […] If the diagnosis is made in childhood, starting a low-methionine diet quickly may prevent some intellectual disability and other complications of the disease. […] Contact your provider if you or a family member shows symptoms of this disorder, especially if you have a family history of homocystinuria. […] Genetic counseling is recommended for people with a family history of homocystinuria who want to have children.

• #75 Newborn Screening Program – Homocystinuria

  http://www.idph.state.il.us/healthwellness/fs/homocystinuria.htm

  Genetic counseling services are recommended. A list of genetic counselors and geneticists whose services are available through the Illinois Department of Public Health should be given to the parents if they have not already seen a geneticist. […] Provide a list of available support services in the community, such as the local health department, Early Intervention service providers and the University of Illinois at Chicago Division of Specialized Care for Children (DSCC).

• #76 Homocystinuria and Organic Acidemias – HealthWell FoundationSearch Icon

  https://www.healthwellfoundation.org/fund/homocystinuria/

  Assistance with the prescription drugs and biologics used in the treatment of homocystinuria and organic acidemias. […] Please make sure that HealthWell currently has a fund for your diagnosis/indication and that your medication is covered under that fund by visiting our Disease Funds listing. […] You will be asked to provide the Foundation with the patient’s diagnosis, which must be verified by a physician, nurse practitioner, or physician assistant’s signature. […] HealthWell assists individuals with incomes up to 300-500% of the Federal Poverty Level. […] If you are receiving treatment in the U.S. and have met the eligibility criteria as listed, you are ready to apply! […] Homocystinuria is elevation of the amino acid, homocysteine (a protein building block), in the urine or blood. […] Early detection and treatment can greatly mitigate the effects of the disorder.

• #77 Newborn Screening Program – Homocystinuria

  http://www.idph.state.il.us/healthwellness/fs/homocystinuria.htm

  Homocystinuria (HCU) is an inherited disorder of amino acid metabolism, caused by an enzymatic defect in a metabolic pathway that leads to increased levels of methionine. […] Early diagnosis and prompt treatment is essential for an improved prognosis. Individuals with homocystinuria need life-long treatment, including a diet restricted in methionine and supplemented with medications. […] Parents should understand that treatment is lifelong and that compliance with dietary management and medications are imperative to the child’s health, growth and development. […] Infants and children with homocystinuria should have regular follow-up appointments with a metabolic disease specialist. […] Long-term management, monitoring and compliance with treatment recommendations are essential to the child’s well-being. A multi-disciplinary approach including the following specialities is recommended: pediatrics, genetics and nutrition. Parents should understand that treatment is not curative and that all morbidity cannot necessarily be prevented.

• #78 FloridaHealthFinder | Homocystinuria | Health Encyclopedia | FloridaHealthFinder

  https://quality.healthfinder.fl.gov/health-encyclopedia/HIE/1/001199

  Homocystinuria is a genetic disorder that affects the metabolism of the amino acid methionine. […] There is no cure for homocystinuria. About half of people with the disease respond to vitamin B6 (also known as pyridoxine). […] Those who do not respond to supplements will need to eat a low-methionine diet. Most will need to be treated with trimethylglycine (a medicine also known as betaine). […] Medicine and diet should be closely monitored by a doctor who has experience treating homocystinuria. […] If the diagnosis is made in childhood, starting a low-methionine diet quickly may prevent some intellectual disability and other complications of the disease. […] Contact your provider if you or a family member shows symptoms of this disorder, especially if you have a family history of homocystinuria. […] Genetic counseling is recommended for people with a family history of homocystinuria who want to have children.

• #79 Homocystinuria

  https://www.nhs.uk/conditions/homocystinuria/

  Homocystinuria (HCU) is a rare but potentially serious inherited condition. […] If HCU is diagnosed, treatment can be given to reduce the risk of serious complications. Treatment may include trial doses of vitamin B6 (pyridoxine), a special diet and advice. […] With early diagnosis and the correct treatment, the majority of children with HCU are able to live healthy lives. However, treatment for HCU must be continued for life. […] Children diagnosed with HCU that doesn’t respond to vitamin B6 are referred to a specialist metabolic dietitian and given a low-protein diet. This is tailored to reduce the amount of methionine your baby receives. […] Your dietitian will provide detailed advice and guidance, as your baby still needs some of these foods for healthy growth and development. […] People with HCU may need to follow a modified diet for the rest of their life. As your child gets older, they’ll eventually need to learn how to control their diet and stay in contact with a dietitian for advice and monitoring.

• #80 Newborn screening information for homocystinuria | Baby’s First Test | Newborn Screening | Baby Health

  https://www.babysfirsttest.org/newborn-screening/conditions/homocystinuria

  Homocystinuria (HCY) is a condition in which the body is unable to break down certain proteins. […] If homocystinuria is detected early and treatment is begun, children with homocystinuria can often lead healthy lives. […] Your baby may need to be on a restricted diet to avoid foods containing methionine, a substance in proteins, which individuals with homocystinuria (HCY) cannot break down. […] Your baby’s doctor might also recommend special formulas and foods for children with HCY. These formulas will likely need to continue through adulthood. […] With early and ongoing treatment, children with homocystinuria (HCY) can have healthy growth and development. Treatment can reduce the chances for developing blood clots, vision trouble, heart disease, and strokes. […] Support groups can help connect families who have a child or other family member affected with homocystinuria with a supportive community of people who have experience and expertise in living with the condition. […] Work with your baby’s doctor to determine the next steps for your baby’s care. Your baby’s doctor may help you coordinate care with a doctor specializing in metabolism, a dietician who can help plan your child’s specialized diet, and other medical resources in your community.

• #81 Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7945666/

  There is often a long delay in diagnosing the homocystinurias unless this is achieved by newborn screening; this survey also highlights problems with the availability and cost of treatment and the palatability of protein substitutes. […] The diagnosis was given in person to 66% of patients/parents, by telephone to 23% and in a letter to 1%. […] Only 26% of patients were offered psychological support. […] Most respondents (90%) were extremely, highly or somewhat interested in joining support groups but only 21% were given information about these at the time of diagnosis and only 50% had found a relevant group in their country. […] Care was considered good or excellent by 67% of respondents, average or fair by 29% and only 4% considered it poor. […] Nearly forty percent of participants were extremely (11.1%) or very (27.3%) satisfied with the treatment but 13.1% of patients were very dissatisfied and almost fifty percent considered treatment only partly satisfactory.

• #82 Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7945666/

  There is often a long delay in diagnosing the homocystinurias unless this is achieved by newborn screening; this survey also highlights problems with the availability and cost of treatment and the palatability of protein substitutes. […] The diagnosis was given in person to 66% of patients/parents, by telephone to 23% and in a letter to 1%. […] Only 26% of patients were offered psychological support. […] Most respondents (90%) were extremely, highly or somewhat interested in joining support groups but only 21% were given information about these at the time of diagnosis and only 50% had found a relevant group in their country. […] Care was considered good or excellent by 67% of respondents, average or fair by 29% and only 4% considered it poor. […] Nearly forty percent of participants were extremely (11.1%) or very (27.3%) satisfied with the treatment but 13.1% of patients were very dissatisfied and almost fifty percent considered treatment only partly satisfactory.

• #83 Newborn Screening Program – Homocystinuria

  http://www.idph.state.il.us/healthwellness/fs/homocystinuria.htm

  Homocystinuria (HCU) is an inherited disorder of amino acid metabolism, caused by an enzymatic defect in a metabolic pathway that leads to increased levels of methionine. […] Early diagnosis and prompt treatment is essential for an improved prognosis. Individuals with homocystinuria need life-long treatment, including a diet restricted in methionine and supplemented with medications. […] Parents should understand that treatment is lifelong and that compliance with dietary management and medications are imperative to the child’s health, growth and development. […] Infants and children with homocystinuria should have regular follow-up appointments with a metabolic disease specialist. […] Long-term management, monitoring and compliance with treatment recommendations are essential to the child’s well-being. A multi-disciplinary approach including the following specialities is recommended: pediatrics, genetics and nutrition. Parents should understand that treatment is not curative and that all morbidity cannot necessarily be prevented.

• #84 Homocystinuria – Metabolic Support UKAccessibility ToolsIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://metabolicsupportuk.org/condition/homocystinuria/

  HCU is managed with the following special diet: […] In babies, a restricted amount of methionine (protein) is given from breast milk or measured amounts of infant formula. The amount given will be monitored regularly by your specialist metabolic dietitian. Protein substitute is essential for metabolic control. […] Damage can be prevented with a protein restricted diet and a protein substitute. […] With early management normal development is achievable. This should also prevent long term complications such as osteoporosis (thin bones), blood clots and strokes. […] Frequent blood tests to check homocysteine, methionine and cystine […] Diet and medications are adjusted according to age, weight and blood chemical levels.

• #85 Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7945666/

  The diagnosis was made by newborn screening in 20% of patients and in 50% of the others within 1 year of the initial symptom but in 12.5% it took over 15 years. […] Physicians need to learn to measure homocysteine concentrations in children with neurodevelopmental problems, and in patients with heterogeneous symptoms such as thromboembolism, dislocation of the optic lens, haemolytic uraemic syndrome, and psychiatric disease. […] Early-onset CBS deficiency usually requires a low-protein diet with amino acid supplements. […] More than a third of the participants reported problems with the availability or cost of treatment. […] Only half of the patients always took their amino acid mixture. […] In contrast, good adherence to the protein restriction was reported in 98% but 80% said it was hard, time-consuming and caused unhappiness.

• #86 Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7945666/

  Most participants (n=67) reported no problems with the availability or affordability of drugs and vitamins but 37 reported problems related to availability (struggle to contact suppliers. Always out of stock; not available in my country), financial burdens (very expensive and the insurance does not cover) or cumbersome administrative and logistic processes. […] The financial burden on some patients was illustrated by the respondents estimate of the monthly additional costs of medications or vitamins to their family to a mean of 231 (median 46; range 0 to 4495). […] A low-methionine diet is recommended for pyridoxine-nonresponsive CBS deficient patients, achieved by severe protein restriction and methionine-free amino acid supplements. […] These patients require close monitoring of their nutritional status and dietary intake.

• #87 Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7945666/

  Most participants (n=67) reported no problems with the availability or affordability of drugs and vitamins but 37 reported problems related to availability (struggle to contact suppliers. Always out of stock; not available in my country), financial burdens (very expensive and the insurance does not cover) or cumbersome administrative and logistic processes. […] The financial burden on some patients was illustrated by the respondents estimate of the monthly additional costs of medications or vitamins to their family to a mean of 231 (median 46; range 0 to 4495). […] A low-methionine diet is recommended for pyridoxine-nonresponsive CBS deficient patients, achieved by severe protein restriction and methionine-free amino acid supplements. […] These patients require close monitoring of their nutritional status and dietary intake.

• #88 Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01764-x

  Care was considered good or excellent by 67% of respondents, average or fair by 29% and only 4% considered it poor. […] Nearly forty percent of participants were extremely (11.1%) or very (27.3%) satisfied with the treatment but 13.1% of patients were very dissatisfied and almost fifty percent considered treatment only partly satisfactory. […] Most participants (n=67) reported no problems with the availability or affordability of drugs and vitamins but 37 reported problems related to availability (struggle to contact suppliers. Always out of stock; not available in my country), financial burdens (very expensive and the insurance does not cover) or cumbersome administrative and logistic processes. […] The financial burden on some patients was illustrated by the respondents estimate of the monthly additional costs of medications or vitamins to their family to a mean of 231 (median 46; range 0 to 4495).

• #89 Homocystinuria and Organic Acidemias – HealthWell FoundationSearch Icon

  https://www.healthwellfoundation.org/fund/homocystinuria/

  Assistance with the prescription drugs and biologics used in the treatment of homocystinuria and organic acidemias. […] Please make sure that HealthWell currently has a fund for your diagnosis/indication and that your medication is covered under that fund by visiting our Disease Funds listing. […] You will be asked to provide the Foundation with the patient’s diagnosis, which must be verified by a physician, nurse practitioner, or physician assistant’s signature. […] HealthWell assists individuals with incomes up to 300-500% of the Federal Poverty Level. […] If you are receiving treatment in the U.S. and have met the eligibility criteria as listed, you are ready to apply! […] Homocystinuria is elevation of the amino acid, homocysteine (a protein building block), in the urine or blood. […] Early detection and treatment can greatly mitigate the effects of the disorder.

• #90 Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7945666/

  The diagnosis was made by newborn screening in 20% of patients and in 50% of the others within 1 year of the initial symptom but in 12.5% it took over 15 years. […] Physicians need to learn to measure homocysteine concentrations in children with neurodevelopmental problems, and in patients with heterogeneous symptoms such as thromboembolism, dislocation of the optic lens, haemolytic uraemic syndrome, and psychiatric disease. […] Early-onset CBS deficiency usually requires a low-protein diet with amino acid supplements. […] More than a third of the participants reported problems with the availability or cost of treatment. […] Only half of the patients always took their amino acid mixture. […] In contrast, good adherence to the protein restriction was reported in 98% but 80% said it was hard, time-consuming and caused unhappiness.

• #91 Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7945666/

  The diagnosis was made by newborn screening in 20% of patients and in 50% of the others within 1 year of the initial symptom but in 12.5% it took over 15 years. […] Physicians need to learn to measure homocysteine concentrations in children with neurodevelopmental problems, and in patients with heterogeneous symptoms such as thromboembolism, dislocation of the optic lens, haemolytic uraemic syndrome, and psychiatric disease. […] Early-onset CBS deficiency usually requires a low-protein diet with amino acid supplements. […] More than a third of the participants reported problems with the availability or cost of treatment. […] Only half of the patients always took their amino acid mixture. […] In contrast, good adherence to the protein restriction was reported in 98% but 80% said it was hard, time-consuming and caused unhappiness.

• #92 Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01764-x

  The diagnosis was made by newborn screening in 20% of patients and in 50% of the others within 1 year of the initial symptom but in 12.5% it took over 15 years. […] Early-onset CBS deficiency usually requires a low-protein diet with amino acid supplements. […] More than a third of the participants reported problems with the availability or cost of treatment. […] Only half of the patients always took their amino acid mixture. […] In contrast, good adherence to the protein restriction was reported in 98% but 80% said it was hard, time-consuming and caused unhappiness. […] There is often a long delay in diagnosing the homocystinurias unless this is achieved by newborn screening; this survey also highlights problems with the availability and cost of treatment and the palatability of protein substitutes.

• #93 Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7945666/

  There is often a long delay in diagnosing the homocystinurias unless this is achieved by newborn screening; this survey also highlights problems with the availability and cost of treatment and the palatability of protein substitutes. […] The diagnosis was given in person to 66% of patients/parents, by telephone to 23% and in a letter to 1%. […] Only 26% of patients were offered psychological support. […] Most respondents (90%) were extremely, highly or somewhat interested in joining support groups but only 21% were given information about these at the time of diagnosis and only 50% had found a relevant group in their country. […] Care was considered good or excellent by 67% of respondents, average or fair by 29% and only 4% considered it poor. […] Nearly forty percent of participants were extremely (11.1%) or very (27.3%) satisfied with the treatment but 13.1% of patients were very dissatisfied and almost fifty percent considered treatment only partly satisfactory.

• #94 Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7945666/

  The diagnosis was made by newborn screening in 20% of patients and in 50% of the others within 1 year of the initial symptom but in 12.5% it took over 15 years. […] Physicians need to learn to measure homocysteine concentrations in children with neurodevelopmental problems, and in patients with heterogeneous symptoms such as thromboembolism, dislocation of the optic lens, haemolytic uraemic syndrome, and psychiatric disease. […] Early-onset CBS deficiency usually requires a low-protein diet with amino acid supplements. […] More than a third of the participants reported problems with the availability or cost of treatment. […] Only half of the patients always took their amino acid mixture. […] In contrast, good adherence to the protein restriction was reported in 98% but 80% said it was hard, time-consuming and caused unhappiness.

• #95 Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7945666/

  Most participants (n=67) reported no problems with the availability or affordability of drugs and vitamins but 37 reported problems related to availability (struggle to contact suppliers. Always out of stock; not available in my country), financial burdens (very expensive and the insurance does not cover) or cumbersome administrative and logistic processes. […] The financial burden on some patients was illustrated by the respondents estimate of the monthly additional costs of medications or vitamins to their family to a mean of 231 (median 46; range 0 to 4495). […] A low-methionine diet is recommended for pyridoxine-nonresponsive CBS deficient patients, achieved by severe protein restriction and methionine-free amino acid supplements. […] These patients require close monitoring of their nutritional status and dietary intake.

• #96 Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7945666/

  Most participants (n=67) reported no problems with the availability or affordability of drugs and vitamins but 37 reported problems related to availability (struggle to contact suppliers. Always out of stock; not available in my country), financial burdens (very expensive and the insurance does not cover) or cumbersome administrative and logistic processes. […] The financial burden on some patients was illustrated by the respondents estimate of the monthly additional costs of medications or vitamins to their family to a mean of 231 (median 46; range 0 to 4495). […] A low-methionine diet is recommended for pyridoxine-nonresponsive CBS deficient patients, achieved by severe protein restriction and methionine-free amino acid supplements. […] These patients require close monitoring of their nutritional status and dietary intake.

• #97 Homocystinuria – ThinkGenetic Foundation

  https://thinkgenetic.org/diseases/homocystinuria/

  Starting a low-protein diet as soon as possible is very important. It will help manage the symptoms of homocystinuria. Seeing a dietician is needed to make sure that the low-protein diet is being managed properly. Follow-up with the patient should include blood work to check levels of an amino acid called homocysteine in the blood. High levels of homocysteine cause the symptoms seen in this disorder. Follow-up for symptoms should be handled as needed. Women should avoid hormonal birth control, as it increases the risk for blood clots. Surgery should be avoided as it increases the risk for blood clots to block a blood vessel. Your doctor can arrange your care with a medical geneticist. They specialize in treating genetic disorders like homocystinuria. […] A licensed dietician can help you with a low protein diet. They can make sure that you follow it correctly. Dieticians that work in metabolic clinics have experience with diets needed by people with homocystinuria. To find a metabolic dietitian specializing in diets for people with metabolic conditions, visit the GMDI Find a Metabolic Dietitian webpage.

• #98 Homocystinuria/Homocysteinemia: Overview, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1952251-overview

  Early diagnosis of homocystinuria along with prophylactic medical and dietary care is a key to better long-term prognosis; it can halt or even reverse some of the complications. […] Patients with homocystinuria are prone to thromboembolic events in the perioperative and postoperative periods, even with minor surgeries. Preoperative levels of homocysteine should be reduced to a near normal level. During and after surgery, aggressive hydration and prophylaxis for deep vein thrombosis (DVT) are strongly recommended.

• #99 MCB Homocystinuria — New England Consortium of Metabolic Programs

  https://www.newenglandconsortium.org/mcb-homocystinuria

  Homocystinuria is a rare metabolic condition in which a chemical called CBS does not work correctly in your body. This can cause two chemicals, homocysteine and methionine, to build up in your blood over time. When these build up too much, they can cause serious health problems. You can manage homocystinuria throughout your life with a special low-protein diet, drug therapy with betaine and other medicines, and ongoing health care. […] Follow a low-protein/low-methionine diet recommended by your dietician. […] Take betaine and other medicines recommended by your health care providers. […] Stay in regular contact with your health care providers and health specialists. […] Pregnant women with homocystinuria must follow a careful diet with special guidance from a dietician and health care providers. […] Women with homocystinuria should not use birth control pills that contain estrogen, as these increase the risk of blood clots.

• #100 Homocystinuria/Homocysteinemia: Overview, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1952251-overview

  Early diagnosis of homocystinuria along with prophylactic medical and dietary care is a key to better long-term prognosis; it can halt or even reverse some of the complications. […] Patients with homocystinuria are prone to thromboembolic events in the perioperative and postoperative periods, even with minor surgeries. Preoperative levels of homocysteine should be reduced to a near normal level. During and after surgery, aggressive hydration and prophylaxis for deep vein thrombosis (DVT) are strongly recommended.

• #101 Homocystinuria/Homocysteinemia: Overview, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1115062-treatment

  Early diagnosis of homocystinuria along with prophylactic medical and dietary care is a key to better long-term prognosis; it can halt or even reverse some of the complications. […] Patients with homocystinuria are prone to thromboembolic events in the perioperative and postoperative periods, even with minor surgeries.

• #102 Homocystinuria/Homocysteinemia: Overview, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1952251-overview

  Early diagnosis of homocystinuria along with prophylactic medical and dietary care is a key to better long-term prognosis; it can halt or even reverse some of the complications. […] Patients with homocystinuria are prone to thromboembolic events in the perioperative and postoperative periods, even with minor surgeries. Preoperative levels of homocysteine should be reduced to a near normal level. During and after surgery, aggressive hydration and prophylaxis for deep vein thrombosis (DVT) are strongly recommended.

• #103 MCB Homocystinuria — New England Consortium of Metabolic Programs

  https://www.newenglandconsortium.org/mcb-homocystinuria

  Homocystinuria is a rare metabolic condition in which a chemical called CBS does not work correctly in your body. This can cause two chemicals, homocysteine and methionine, to build up in your blood over time. When these build up too much, they can cause serious health problems. You can manage homocystinuria throughout your life with a special low-protein diet, drug therapy with betaine and other medicines, and ongoing health care. […] Follow a low-protein/low-methionine diet recommended by your dietician. […] Take betaine and other medicines recommended by your health care providers. […] Stay in regular contact with your health care providers and health specialists. […] Pregnant women with homocystinuria must follow a careful diet with special guidance from a dietician and health care providers. […] Women with homocystinuria should not use birth control pills that contain estrogen, as these increase the risk of blood clots.

• #104 MCB Homocystinuria — New England Consortium of Metabolic Programs

  https://www.newenglandconsortium.org/mcb-homocystinuria

  Homocystinuria is a rare metabolic condition in which a chemical called CBS does not work correctly in your body. This can cause two chemicals, homocysteine and methionine, to build up in your blood over time. When these build up too much, they can cause serious health problems. You can manage homocystinuria throughout your life with a special low-protein diet, drug therapy with betaine and other medicines, and ongoing health care. […] Follow a low-protein/low-methionine diet recommended by your dietician. […] Take betaine and other medicines recommended by your health care providers. […] Stay in regular contact with your health care providers and health specialists. […] Pregnant women with homocystinuria must follow a careful diet with special guidance from a dietician and health care providers. […] Women with homocystinuria should not use birth control pills that contain estrogen, as these increase the risk of blood clots.

• #105 Newborn Screening Program – Homocystinuria

  http://www.idph.state.il.us/healthwellness/fs/homocystinuria.htm

  Homocystinuria (HCU) is an inherited disorder of amino acid metabolism, caused by an enzymatic defect in a metabolic pathway that leads to increased levels of methionine. […] Early diagnosis and prompt treatment is essential for an improved prognosis. Individuals with homocystinuria need life-long treatment, including a diet restricted in methionine and supplemented with medications. […] Parents should understand that treatment is lifelong and that compliance with dietary management and medications are imperative to the child’s health, growth and development. […] Infants and children with homocystinuria should have regular follow-up appointments with a metabolic disease specialist. […] Long-term management, monitoring and compliance with treatment recommendations are essential to the child’s well-being. A multi-disciplinary approach including the following specialities is recommended: pediatrics, genetics and nutrition. Parents should understand that treatment is not curative and that all morbidity cannot necessarily be prevented.

• #106 Role of Homocystinuria in Newborns and Individualized Treatment Plans for a Lifelong Condition

  https://www.walshmedicalmedia.com/open-access/role-of-homocystinuria-in-newborns-and-individualized-treatment-plans-for-a-lifelong-condition-123690.html

  Newborn screening of homocystinuria have revolutionized pediatric healthcare by enabling the early detection of rare, yet potentially devastating, genetic conditions. […] Homocystinuria is an inherited metabolic disorder that, if left untreated, can lead to severe health issues and developmental challenges. […] Without early intervention, homocystinuria can have a profound impact on a child’s health and development. […] Early diagnosis of homocystinuria is important because prompt treatment can prevent or mitigate many of the disorder’s complications. […] Newborn screening for homocystinuria is a critical tool in preventing the devastating consequences of this disorder. […] Early detection through newborn screening allows for immediate intervention, which can significantly improve the long-term outlook for individuals with homocystinuria.

• #107 Homocystinuria: Challenges in diagnosis and management

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2830775/

  Two patients with homocystinuria are discussed. […] The management of patients with homocystinuria continues to pose a challenge to physicians and care givers. […] The diagnosis of classic homocystinuria was conclusively established with the confirmation of cystathionine beta-synthase deficiency in cultured fibroblasts. The patient began pyridoxine 500 mg once a day, folic acid 5 mg once a day and a low methionine diet. […] The patient remains severely affected by homocystinuria, and requires constant supervision to perform activities of daily living and infant care tasks. […] Delayed diagnosis of homocystinuria decreases the likelihood of optimal developmental outcome, and leads to an increased risk of systemic consequences. […] Earlier case detection, along with the introduction of a low methionine diet and pyridoxine supplements, is associated with a better prognosis, thus providing evidence for including the detection of homocystinuria in the newborn screening programs.

• #108 Homocystinuria/Homocysteinemia: Overview, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1952251-overview

  If homocystinuria is suspected on the basis of history, physical examination, and family history, the patient may be transferred to a tertiary care center, where expertise in a variety of relevant fields is more likely to be available. […] Pyridoxine, at a dose of 100-500 mg/d, is the drug of choice. Patients may be divided into pyridoxine-sensitive and pyridoxine-insensitive groups. In the first group, pyridoxine, folic acid, and vitamin B12 are prescribed. These three vitamins, in combination, reduce the homocysteine levels as well as provide clinical benefit. […] Measuring homocystine levels can be used to monitor the effectiveness of treatment. If pyridoxine alone is not effective, folic acid and vitamin B12 can be added to the regimen. […] If patients are pyridoxine insensitive, a low-methionine diet initiated at diagnosis, along with betaine supplementation, may help reduce homocysteine levels.

• #109 Homocystinuria (HCU): Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/25160-homocystinuria

  Homocystinuria treatment involves managing your symptoms by controlling the homocysteine levels in your blood. Treatment usually includes taking a vitamin B6 supplement. If you have vitamin B6-responsive classical homocystinuria, vitamin B6 supplementation may be enough to reduce and control your homocysteine levels. […] If you have vitamin B6-non-responsive or partially vitamin B6-responsive classical homocystinuria, then vitamin B6 supplements won’t be enough. You’ll need additional treatment options, including: […] A medication called betaine (cystadane): Betaine can help lower the levels of homocysteine in your blood. […] A special diet for homocystinuria: You may have to stay on a diet that restricts your protein and methionine intake. […] Additional supplements: If you have another type of homocystinuria, you may need to take folate (vitamin B9) or cobalamin (vitamin B12) supplements.

• #110 Homocystinuria/Homocysteinemia: Overview, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1952251-overview

  If homocystinuria is suspected on the basis of history, physical examination, and family history, the patient may be transferred to a tertiary care center, where expertise in a variety of relevant fields is more likely to be available. […] Pyridoxine, at a dose of 100-500 mg/d, is the drug of choice. Patients may be divided into pyridoxine-sensitive and pyridoxine-insensitive groups. In the first group, pyridoxine, folic acid, and vitamin B12 are prescribed. These three vitamins, in combination, reduce the homocysteine levels as well as provide clinical benefit. […] Measuring homocystine levels can be used to monitor the effectiveness of treatment. If pyridoxine alone is not effective, folic acid and vitamin B12 can be added to the regimen. […] If patients are pyridoxine insensitive, a low-methionine diet initiated at diagnosis, along with betaine supplementation, may help reduce homocysteine levels.

• #111 Homocystinuria (HCU): Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/25160-homocystinuria

  Homocystinuria treatment involves managing your symptoms by controlling the homocysteine levels in your blood. Treatment usually includes taking a vitamin B6 supplement. If you have vitamin B6-responsive classical homocystinuria, vitamin B6 supplementation may be enough to reduce and control your homocysteine levels. […] If you have vitamin B6-non-responsive or partially vitamin B6-responsive classical homocystinuria, then vitamin B6 supplements won’t be enough. You’ll need additional treatment options, including: […] A medication called betaine (cystadane): Betaine can help lower the levels of homocysteine in your blood. […] A special diet for homocystinuria: You may have to stay on a diet that restricts your protein and methionine intake. […] Additional supplements: If you have another type of homocystinuria, you may need to take folate (vitamin B9) or cobalamin (vitamin B12) supplements.

• #112 FloridaHealthFinder | Homocystinuria | Health Encyclopedia | FloridaHealthFinder

  https://quality.healthfinder.fl.gov/health-encyclopedia/HIE/1/001199

  Homocystinuria is a genetic disorder that affects the metabolism of the amino acid methionine. […] There is no cure for homocystinuria. About half of people with the disease respond to vitamin B6 (also known as pyridoxine). […] Those who do not respond to supplements will need to eat a low-methionine diet. Most will need to be treated with trimethylglycine (a medicine also known as betaine). […] Medicine and diet should be closely monitored by a doctor who has experience treating homocystinuria. […] If the diagnosis is made in childhood, starting a low-methionine diet quickly may prevent some intellectual disability and other complications of the disease. […] Contact your provider if you or a family member shows symptoms of this disorder, especially if you have a family history of homocystinuria. […] Genetic counseling is recommended for people with a family history of homocystinuria who want to have children.

• #113 Homocystinuria

  https://www.nhs.uk/conditions/homocystinuria/

  Homocystinuria (HCU) is a rare but potentially serious inherited condition. […] If HCU is diagnosed, treatment can be given to reduce the risk of serious complications. Treatment may include trial doses of vitamin B6 (pyridoxine), a special diet and advice. […] With early diagnosis and the correct treatment, the majority of children with HCU are able to live healthy lives. However, treatment for HCU must be continued for life. […] Children diagnosed with HCU that doesn’t respond to vitamin B6 are referred to a specialist metabolic dietitian and given a low-protein diet. This is tailored to reduce the amount of methionine your baby receives. […] Your dietitian will provide detailed advice and guidance, as your baby still needs some of these foods for healthy growth and development. […] People with HCU may need to follow a modified diet for the rest of their life. As your child gets older, they’ll eventually need to learn how to control their diet and stay in contact with a dietitian for advice and monitoring.

• #114 Managing Homocysteine with FSMPs: A Comprehensive Approach

  https://invimeds.com/updates/all-about-homocystinuria-and-role-of-fsmp-in-homocystinuria/

  Homocystinuria patients are advised to incorporate Foods for Special Medical Purposes (FSMPs) into their diet regimen when appropriate, as part of a comprehensive strategy to manage their condition. These specialized products are carefully formulated to restrict high-protein foods, especially those abundant in methionine, which can exacerbate the accumulation of homocysteine in the bloodstream. FSMP for homocystinuria includes, […] These specialized formulations are intended to promote healthy growth and development while mitigating the buildup of homocysteine in the blood. […] Continuing lifelong management is essential for individuals with HCU. Medical formulas constitute a vital aspect of their dietary regimen, serving as a cornerstone in their care. These formulas utilize individual amino acids as a protein source, intentionally omitting methionine to prevent adverse effects.

• #115 Homocystinuria | Newborn Screening

  https://newbornscreening.hrsa.gov/conditions/homocystinuria

  You should complete any recommended follow-up testing as soon as possible. Babies with this condition can have serious health problems if they are not diagnosed and treated quickly. […] It is important to talk to your health care provider about which treatment(s) are best for your baby. The goal of treatment is to prevent the health problems caused by this condition. […] Treatments may include the following: Diet low in protein (specifically methionine), Special formulas and foods, Vitamin B-6, betaine, folic acid, or other vitamin supplements in some cases of homocystinuria. […] Children who receive early and ongoing treatment for homocystinuria can have healthy growth and development. Treatment is very important for lowering the chance of blood clots and eye and heart problems.

• #116 Homocystinuria

  https://www.nhs.uk/conditions/homocystinuria/

  Regular blood tests will also be needed to monitor the amount of homocysteine in their blood. […] Alongside a low-protein diet, your child may be prescribed a medicine called betaine in later childhood to help clear some of the excess homocysteine. […] Medicine for HCU needs to be taken regularly, as directed by your doctor.

• #117 Homocystinuria – Metabolic Support UKAccessibility ToolsIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://metabolicsupportuk.org/condition/homocystinuria/

  HCU is managed with the following special diet: […] In babies, a restricted amount of methionine (protein) is given from breast milk or measured amounts of infant formula. The amount given will be monitored regularly by your specialist metabolic dietitian. Protein substitute is essential for metabolic control. […] Damage can be prevented with a protein restricted diet and a protein substitute. […] With early management normal development is achievable. This should also prevent long term complications such as osteoporosis (thin bones), blood clots and strokes. […] Frequent blood tests to check homocysteine, methionine and cystine […] Diet and medications are adjusted according to age, weight and blood chemical levels.

• #118 Homocystinuria – ThinkGenetic Foundation

  https://thinkgenetic.org/diseases/homocystinuria/

  Some people with homocystinuria have intellectual problems and some of them do not. There is no way to know if someone will have an intellectual disability. There is no way to prevent it. Early treatment can reduce the risk. It is important for the individual with homocystinuria to be started on treatment as soon as possible. Talk to a doctor about treatment options available for homocystinuria. A medical geneticist is the type of doctor who treats homocystinuria. […] A medical geneticist, genetic counselor, dietician, and ophthalmologist (eye doctor) should be part of your medical team. Medical geneticists are doctors with special training in genetics. They can diagnose and treat homocystinuria. They will work with a dietician to help affected people plan the best diet. Other medical specialists may be needed to treat certain symptoms. An ophthalmologist treats eye problems that are sometimes seen in homocystinuria. A genetic counselor is trained in genetics and can assist in genetic testing and counseling.

• #119 Newborn Screening Program – Homocystinuria

  http://www.idph.state.il.us/healthwellness/fs/homocystinuria.htm

  Homocystinuria (HCU) is an inherited disorder of amino acid metabolism, caused by an enzymatic defect in a metabolic pathway that leads to increased levels of methionine. […] Early diagnosis and prompt treatment is essential for an improved prognosis. Individuals with homocystinuria need life-long treatment, including a diet restricted in methionine and supplemented with medications. […] Parents should understand that treatment is lifelong and that compliance with dietary management and medications are imperative to the child’s health, growth and development. […] Infants and children with homocystinuria should have regular follow-up appointments with a metabolic disease specialist. […] Long-term management, monitoring and compliance with treatment recommendations are essential to the child’s well-being. A multi-disciplinary approach including the following specialities is recommended: pediatrics, genetics and nutrition. Parents should understand that treatment is not curative and that all morbidity cannot necessarily be prevented.

• #120 Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7945666/

  There is often a long delay in diagnosing the homocystinurias unless this is achieved by newborn screening; this survey also highlights problems with the availability and cost of treatment and the palatability of protein substitutes. […] The diagnosis was given in person to 66% of patients/parents, by telephone to 23% and in a letter to 1%. […] Only 26% of patients were offered psychological support. […] Most respondents (90%) were extremely, highly or somewhat interested in joining support groups but only 21% were given information about these at the time of diagnosis and only 50% had found a relevant group in their country. […] Care was considered good or excellent by 67% of respondents, average or fair by 29% and only 4% considered it poor. […] Nearly forty percent of participants were extremely (11.1%) or very (27.3%) satisfied with the treatment but 13.1% of patients were very dissatisfied and almost fifty percent considered treatment only partly satisfactory.

• #121 Homocystinuria/Homocysteinemia: Overview, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1952251-overview

  Early diagnosis of homocystinuria along with prophylactic medical and dietary care is a key to better long-term prognosis; it can halt or even reverse some of the complications. […] Patients with homocystinuria are prone to thromboembolic events in the perioperative and postoperative periods, even with minor surgeries. Preoperative levels of homocysteine should be reduced to a near normal level. During and after surgery, aggressive hydration and prophylaxis for deep vein thrombosis (DVT) are strongly recommended.

• #122 MCB Homocystinuria — New England Consortium of Metabolic Programs

  https://www.newenglandconsortium.org/mcb-homocystinuria

  Homocystinuria is a rare metabolic condition in which a chemical called CBS does not work correctly in your body. This can cause two chemicals, homocysteine and methionine, to build up in your blood over time. When these build up too much, they can cause serious health problems. You can manage homocystinuria throughout your life with a special low-protein diet, drug therapy with betaine and other medicines, and ongoing health care. […] Follow a low-protein/low-methionine diet recommended by your dietician. […] Take betaine and other medicines recommended by your health care providers. […] Stay in regular contact with your health care providers and health specialists. […] Pregnant women with homocystinuria must follow a careful diet with special guidance from a dietician and health care providers. […] Women with homocystinuria should not use birth control pills that contain estrogen, as these increase the risk of blood clots.

• #123 Homocystinuria

  https://www.nhs.uk/conditions/homocystinuria/

  Homocystinuria (HCU) is a rare but potentially serious inherited condition. […] If HCU is diagnosed, treatment can be given to reduce the risk of serious complications. Treatment may include trial doses of vitamin B6 (pyridoxine), a special diet and advice. […] With early diagnosis and the correct treatment, the majority of children with HCU are able to live healthy lives. However, treatment for HCU must be continued for life. […] Children diagnosed with HCU that doesn’t respond to vitamin B6 are referred to a specialist metabolic dietitian and given a low-protein diet. This is tailored to reduce the amount of methionine your baby receives. […] Your dietitian will provide detailed advice and guidance, as your baby still needs some of these foods for healthy growth and development. […] People with HCU may need to follow a modified diet for the rest of their life. As your child gets older, they’ll eventually need to learn how to control their diet and stay in contact with a dietitian for advice and monitoring.

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