Materiały źródłowe

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

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

  You cant prevent homocystinuria because its a genetic condition. […] If youre pregnant or planning to become pregnant in the future, consider talking to a genetic counselor. Genetic counseling can help you understand your risk of having a child with homocystinuria.

• #1 HIE Multimedia – Homocystinuria

  https://adamcertificationdemo.adam.com/content.aspx?productid=117&isarticlelink=false&pid=1&gid=001199

  Genetic counseling is recommended for people with a family history of homocystinuria who want to have children. Prenatal diagnosis of homocystinuria is available. This involves culturing amniotic cells or chorionic villi to test for cystathionine synthase (the enzyme that is missing in homocystinuria). […] If there are known gene conditions in the parents or family, samples from chorionic villus sampling or amniocentesis can be used to test for these defects before a baby is born.

• #1 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. […] However, if homocystinuria is detected early and treatment is begun, children with homocystinuria can often lead healthy lives. […] If your baby shows any of these signs, be sure to contact your babys healthcare provider immediately. […] 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. A dietician or nutritionist can help you plan an appropriate diet for your child. […] With early and on-going 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. This is why it is important to have newborn screening for HCY. […] Because HCY is a genetic condition, you may want to talk with a genetics specialist. A genetic counselor or geneticist can help you understand the causes of the condition, discuss genetic testing for HCY, and understand what this diagnosis means for other family members and future pregnancies.

• #1 Homocystinuria | Amino Acid Metabolism Disorder – Causes, Symptoms, Diagnosis and Treatment

  https://www.medindia.net/health/conditions/homocystinuria-amino-acid-metabolism-disorder.htm

  It is difficult to prevent homocystinuria as this disorder occurs due to genetic mutations. You should think of going to a genetic counselor if there is a family history of homocystinuria. Prospective parents can employ this method to estimate the risks of having a child who might have the disease […] Asking for an intrauterine diagnosis of the disorder during pregnancy is another method to possibly prevent this condition. A sample of amniotic fluid is obtained and tested for the presence of the genetic mutation […] Complications of homocystinuria may be prevented by screening of newborns with a blood test around five days within birth to check for the condition so that early treatment can be started.

• #1 Homocystinuria due to cystathionine beta-synthase deficiency | MedLink Neurology

  https://www.medlink.com/articles/homocystinuria-due-to-cystathionine-beta-synthase-deficiency

  From observation in patients in whom homocystinuria was detected early and treated, some evidence indicates that presymptomatic initiation of treatment is able to prevent cognitive impairment, lens dislocation, and thromboembolic events. […] Newborn screening for cystathionine beta-synthase deficiency would represent the tool for the required timely identification of affected patients. […] Although it is not possible to draw any conclusions based on controlled studies, there are uncontrolled case series that support the efficacy of newborn screening for homocystinuria and its early treatment. […] The risk for thromboembolic events seems to be directly correlated with the plasma homocysteine concentration. Normalization of plasma homocysteine at any time seems to prevent the occurrence of new thromboembolic events, but even when normalization cannot be reached by treatment, lowering the homocysteine concentration lowers the risk for such an event. Thus, lowering homocysteine as much as possible represents the most important measure in homocystinuric patients.

• #1 Meet the flok: Classical Homocystinuria

  https://flok.org/news/meet-the-flok-hcu

  The focus of Danaes current advocacy work is early detection and diagnosis of Homocystinuria. She notes that approximately 50% of Homocystinuria cases are missed because the newborn screening tests are not sensitive enough. […] HCU Network America advocates for legislation to lower state cutoff levels and ensure every baby born with the condition receives a diagnosis within those early days of life; prompt treatment is crucial to reduce adverse health outcomes. […] Danae encourages individuals with Homocystinuria and their families to contact their state newborn screening laboratories to promote improved processes The goal is timely and accessible treatment for everyone born with this condition.

• #1 Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1524/

  Prevention of primary manifestations: Individuals are treated to maintain normal or near-normal plasma total homocysteine concentrations using vitamin B6 (pyridoxine) therapy (if shown to be B6 responsive), a methionine-restricted diet, and folate and vitamin B12 supplementation. […] The principles of treatment are to correct the biochemical abnormalities especially to control the elevated plasma homocysteine concentrations as much as possible, to prevent or at least reduce the complications of homocystinuria, and to prevent further complications such as thrombosis. […] The best results have been reported in those individuals identified by newborn screening and treated shortly after birth in whom the plasma free homocystine concentration is maintained below 11 mol/L (preferably, 5 mol/L).

• #1 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. […] 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.

• #1 Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1524/

  Measures used to control total plasma homocysteine concentration include vitamin B6 (pyridoxine) therapy (if shown to be B6 responsive), methionine-restricted diet, and folate and vitamin B12 supplementation. […] Betaine therapy is usually added to the therapeutic regimen; in adolescents and adults betaine may be the major form of treatment but it is preferable to remain on life-long metabolic diet. […] Prophylactic anticoagulation with low molecular-weight heparin is recommended during the third trimester and post partum to reduce risk of thromboembolism.

• #1 Homocystinuria – EyeWiki

  https://eyewiki.org/Homocystinuria

  The primary goal of systemic management is to maintain appropriate levels of homocysteine and to prevent thrombosis. Homocysteine concentrations should be kept below 100 mol/L in adults, and below 50 mol/L in children, halting lens subluxation and allowing standard bone growth to resume. […] About half of patients respond to vitamin B6 (pyridoxine) supplementation. Pyridoxine is a cofactor of CBS and is known to stimulate any residual activity of CBS and play a critical role in regulating its activity. […] For those who are not responsive to Pyridoxine, a methionine-restricted diet and folate and vitamin B12 supplementation are used. […] Betaine, a methyl donor that facilitates the conversion of homocysteine back to methionine, is usually added and can be the major form of treatment.

• #1 What Is Homocystinuria?

  https://www.webmd.com/children/what-is-homocystinuria

  A metabolic doctor trained in genetic diseases will recommend a treatment plan. You need to start it right away to prevent problems. […] The vitamin helps prevent behavior problems and intellectual problems in some kids. It may lessen the risk of eye and bone problems and blood clots. […] If your child begins treatment as a baby and stays on it, theyll probably grow and develop normally. Treatment also can lower the risk of strokes, heart disease, and blood clots.

• #1 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.

• #1 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. […] While FSMPs may not be necessary for every individual with homocystinuria, they can offer significant benefits for those whose condition cannot be effectively controlled through conventional dietary measures alone or who struggle to adhere to a restricted diet.

• #1 Cystathionine β-synthase deficiency: Effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria | Genetics in Medicine

  https://www.nature.com/articles/gim200416

  Betaine improves metabolic control in B6-nonresponsive patients with homocystinuria after optimum dietary control. […] Betaine improved biochemical control in previous studies of patients with B6-nonresponsive CS deficiency. […] This improvement was achieved in 3 to 6 months, without either side-effect or adverse reactions, consistent with previous reports. […] However, this is the first report of the efficacy of betaine treatment when administered in conjunction with dietary methionine restriction to reduce tHcy in persons with B6-nonresponsive CS deficiency.

• #1 Homocystinuria Presenting as a Simultaneous Dual-Site Venous Thrombosis

  https://www.genesispub.org/homocystinuria-presenting-as-a-simultaneous-dual-site-venous-thrombosis

  The patient responded well to anticoagulation and homocystinuria treatment and was discharged. […] This study emphasizes the importance of maintaining a high index of suspicion for homocystinuria to prevent severe thromboembolic complications. […] The treatment goal for Homocystinuria is to lower the plasma total homocysteine (tHcy) concentration to the level below the therapeutic target to limit the severity of complications and reduces the risk of a further vascular event. […] In conclusion, although Homocystinuria is a very rare condition, it is a treatable and preventable cause of thromboembolism. Physicians should be aware of this underlying cause for unprovoked thromboembolism to introduce timely and effective treatment and prevent further events, as well as future neurologic and vascular complications.

• #1 Homocystinuria – EyeWiki

  https://eyewiki.org/Homocystinuria

  Individuals should be monitored regularly for homocysteine levels and complications. Due to increased coagulability and risk for thromboembolism, surgery should be avoided if possible, and females should avoid oral contraceptives. […] If surgery cannot be avoided, nitrous oxide should be avoided due to its inactivation of methionine synthase causing possible functional disorder of the nervous system. […] Early diagnosis and management within the first 6 weeks of life significantly reduces the morbidity and mortality of homocystinuria. […] However, appropriate long-term treatment is effective in reducing the potentially life-threatening thromboembolic events and any other complication, ocular, skeletal, or nervous.

• #1 EU/3/16/1664 – orphan designation for treatment of homocystinuria | European Medicines Agency (EMA)

  https://www.ema.europa.eu/en/medicines/human/orphan-designations/eu-3-16-1664

  On 30 May 2016, orphan designation (EU/3/16/1664) was granted by the European Commission to Alan Boyd Consultants Ltd, United Kingdom, for polyethylene glycol-modified human recombinant truncated cystathionine beta-synthase for the treatment of homocystinuria. […] At the time of designation, betaine was authorised in the EU for the treatment of homocystinuria. […] The sponsor has provided sufficient information to show that this medicine might be of significant benefit for patients with homocystinuria because studies in experimental models suggested that the medicine used together with the authorised treatment betaine could lower further homocysteine levels. […] The medicine is an enzyme replacement therapy that is expected to work by replacing the malfunctioning enzyme in homocystinuria, helping to break down homocysteine and stopping it from building up in the body.

• #1

  https://www.jci.org/articles/view/85396

  Homocystinuria, which typically results from cystathionine -synthase (CBS) deficiency, is the most common defect of sulfur amino acid metabolism. […] Here, we have shown that administration of PEGylated CBS into the circulation of homocystinuria model mice alters the extra- and intracellular equilibrium of sulfur amino acids, resulting in a decrease of approximately 75% in plasma total homocysteine (tHcy) and normalization of cysteine concentrations. […] Together, these data suggest that CBS enzyme replacement therapy (ERT) is a promising approach for the treatment of homocystinuria and that ERT for metabolic diseases may not necessitate introduction of the deficient enzyme into its natural intracellular compartment. […] An alternative treatment strategy for CBSDH that provides vitamin B6 nonresponders and partial responders with a therapy that improves their metabolic abnormalities, reduces the accumulation of toxic homocysteine in the circulation, and increases cystathionine and cysteine levels is highly desired.

• #1 Newborn Screening Program – Homocystinuria

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

  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 childs health, growth and development. […] Long-term management, monitoring and compliance with treatment recommendations are essential to the childs well-being. […] Genetic counseling services are recommended.

• #1 WV DHHR – OMCFH – Newborn Metabolic Screening – Homocystinuria

  https://www.wvdhhr.org/nbms/diseases/Homocystinuria.asp

  The potential for early clinical diagnosis is limited. […] Treatment seems to reduce the risk of thromboembolic episodes. Because this is the major cause of mortality and morbidity in these patients, the survival rate may improve with early, effective treatment. The incidence of mental retardation may be prevented or reduced. […] For patients with classic (homozygous) homocystinuria, early treatment with good biochemical control (lifetime plasma-free homocystine 11 mol/L) seems to prevent mental retardation, ectopia lentis seems to be delayed, and the incidence of seizures is reduced. […] Programs continue to evaluate the efficacy of screening and early treatment. Improvement in screening to decrease the numbers of missed cases is important. Recent evidence has shown that carriers (heterozygotes) for homocystinuria have an increased risk of thromboembolic events. Therefore, genetic counseling and screening should be offered to relatives of persons with homocystinuria.

• #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. […] 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.

• #2 FloridaHealthFinder | Homocystinuria | Health Encyclopedia | FloridaHealthFinder

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

  Genetic counseling is recommended for people with a family history of homocystinuria who want to have children. Prenatal diagnosis of homocystinuria is available. This involves culturing amniotic cells or chorionic villi to test for cystathionine synthase (the enzyme that is missing in homocystinuria). […] If there are known gene defects in the parents or family, samples from chorionic villus sampling or amniocentesis can be used to test for these defects.

• #2 HIE Multimedia – Homocystinuria

  https://adamcertificationdemo.adam.com/content.aspx?productid=117&isarticlelink=false&pid=1&gid=001199

  Genetic counseling is recommended for people with a family history of homocystinuria who want to have children. Prenatal diagnosis of homocystinuria is available. This involves culturing amniotic cells or chorionic villi to test for cystathionine synthase (the enzyme that is missing in homocystinuria). […] If there are known gene conditions in the parents or family, samples from chorionic villus sampling or amniocentesis can be used to test for these defects before a baby is born.

• #2 Newborn Screening Program – Homocystinuria

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

  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 childs health, growth and development. […] Long-term management, monitoring and compliance with treatment recommendations are essential to the childs well-being. […] Genetic counseling services are recommended.

• #2 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. […] However, if homocystinuria is detected early and treatment is begun, children with homocystinuria can often lead healthy lives. […] If your baby shows any of these signs, be sure to contact your babys healthcare provider immediately. […] 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. A dietician or nutritionist can help you plan an appropriate diet for your child. […] With early and on-going 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. This is why it is important to have newborn screening for HCY. […] Because HCY is a genetic condition, you may want to talk with a genetics specialist. A genetic counselor or geneticist can help you understand the causes of the condition, discuss genetic testing for HCY, and understand what this diagnosis means for other family members and future pregnancies.

• #2 Homocystinuria due to cystathionine beta-synthase deficiency | MedLink Neurology

  https://www.medlink.com/articles/homocystinuria-due-to-cystathionine-beta-synthase-deficiency

  The implementation of a feasible method to measure total homocysteine in the newborn screening sample should overcome the problem. […] A review of newborn screening practice for homocystinuria recommends the revision of decision limits considering population median, the combination of relevant screening markers, and tHcy as second-tier marker.

• #2 Classical homocystinuria: vascular risk and its prevention – PubMed

  https://pubmed.ncbi.nlm.nih.gov/12889665/

  Homocystinuria due to cystathionine beta-synthase deficiency is the second most treatable aminoacidopathy. […] Recognized modalities of treatment include pyridoxine, in combination with folic acid and vitamin B12; methionine-restricted, cystine-supplemented diet; and betaine. […] Appropriate chronic treatment to lower hyperhomocysteinaemia is effective in reducing the potentially life-threatening vascular risk in patients with homocystinuria.

• #2 Homocystinuria – EyeWiki

  https://eyewiki.org/Homocystinuria

  The primary goal of systemic management is to maintain appropriate levels of homocysteine and to prevent thrombosis. Homocysteine concentrations should be kept below 100 mol/L in adults, and below 50 mol/L in children, halting lens subluxation and allowing standard bone growth to resume. […] About half of patients respond to vitamin B6 (pyridoxine) supplementation. Pyridoxine is a cofactor of CBS and is known to stimulate any residual activity of CBS and play a critical role in regulating its activity. […] For those who are not responsive to Pyridoxine, a methionine-restricted diet and folate and vitamin B12 supplementation are used. […] Betaine, a methyl donor that facilitates the conversion of homocysteine back to methionine, is usually added and can be the major form of treatment.

• #2 WV DHHR – OMCFH – Newborn Metabolic Screening – Homocystinuria

  https://www.wvdhhr.org/nbms/diseases/Homocystinuria.asp

  The potential for early clinical diagnosis is limited. […] Treatment seems to reduce the risk of thromboembolic episodes. Because this is the major cause of mortality and morbidity in these patients, the survival rate may improve with early, effective treatment. The incidence of mental retardation may be prevented or reduced. […] For patients with classic (homozygous) homocystinuria, early treatment with good biochemical control (lifetime plasma-free homocystine 11 mol/L) seems to prevent mental retardation, ectopia lentis seems to be delayed, and the incidence of seizures is reduced. […] Programs continue to evaluate the efficacy of screening and early treatment. Improvement in screening to decrease the numbers of missed cases is important. Recent evidence has shown that carriers (heterozygotes) for homocystinuria have an increased risk of thromboembolic events. Therefore, genetic counseling and screening should be offered to relatives of persons with homocystinuria.

• #2 Homocystinuria: Vitamin Deficiency Signs in Children

  https://www.verywellhealth.com/homocystinuria-7553029

  Homocystinuria is a medical condition in which the body does not break down certain proteins into amino acids. This results in vitamin deficiencies, vision changes, blood clots, learning disabilities, poor weight gain, and poor growth in children. […] This article will discuss dietary changes and vitamin supplements for those with homocystinuria. […] If you have homocystinuria, you are unable to make the CBS enzyme. This enzyme uses vitamin B6 to change homocysteine into other necessary amino acids. As a result, you will need vitamin B6 and other vitamin supplements. […] People diagnosed with homocystinuria and not responsive to vitamin B6 supplementation will need to implement a low-protein and low-methionine diet. […] About 50% of people with homocystinuria will respond to treatment with vitamin B6 supplements. These people will also need to take vitamin B9 (folate) and B12 for their entire life.

• #2 Homocystinuria

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

  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. […] 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. […] 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. […] Although it’s not possible to prevent HCU, it’s important to let your midwife and doctor know if you have a family history of the condition.

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

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

  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.

• #2 Managing Homocysteine with FSMPs: A Comprehensive Approach

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

  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. […] 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.

• #2 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.

• #2 EU/3/01/045 – orphan designation for treatment of homocystinuria | European Medicines Agency (EMA)

  https://www.ema.europa.eu/en/medicines/human/orphan-designations/eu301045

  On 9 July 2001, orphan designation (EU/3/01/045) was granted by the European Commission to Orphan Europe, France, for betaine anhydrous for the treatment of homocystinuria. […] Betaine anhydrous could be of potential significant benefit for the treatment of homocystinuria. This is because it may be more effective than the existing medicinal products. […] Cystadane should be used as supplement to other therapies such as vitamin B6 (pyridoxine), vitamin B12 (cobalamin), folate and a specific diet.

• #2

  https://www.jci.org/articles/view/85396

  Homocystinuria, which typically results from cystathionine -synthase (CBS) deficiency, is the most common defect of sulfur amino acid metabolism. […] Here, we have shown that administration of PEGylated CBS into the circulation of homocystinuria model mice alters the extra- and intracellular equilibrium of sulfur amino acids, resulting in a decrease of approximately 75% in plasma total homocysteine (tHcy) and normalization of cysteine concentrations. […] Together, these data suggest that CBS enzyme replacement therapy (ERT) is a promising approach for the treatment of homocystinuria and that ERT for metabolic diseases may not necessitate introduction of the deficient enzyme into its natural intracellular compartment. […] An alternative treatment strategy for CBSDH that provides vitamin B6 nonresponders and partial responders with a therapy that improves their metabolic abnormalities, reduces the accumulation of toxic homocysteine in the circulation, and increases cystathionine and cysteine levels is highly desired.

• #2

  https://www.jci.org/articles/view/85396

  The delivery of PEGylated htCBS thus represents a potential new therapeutic approach for CBSDH. […] In addition to achieving metabolic control of homocysteine levels, administration of PEGhtCBS resulted in a significant increase in cystathionine levels and normalization of cysteine levels. […] The data presented in this study provide a proof of concept for PEGhtCBS as a promising ERT for homocystinuria, one that ameliorates the manifestations and metabolic abnormalities that characterize the disease.

• #2 EU/3/16/1664 – orphan designation for treatment of homocystinuria | European Medicines Agency (EMA)

  https://www.ema.europa.eu/en/medicines/human/orphan-designations/eu-3-16-1664

  On 30 May 2016, orphan designation (EU/3/16/1664) was granted by the European Commission to Alan Boyd Consultants Ltd, United Kingdom, for polyethylene glycol-modified human recombinant truncated cystathionine beta-synthase for the treatment of homocystinuria. […] At the time of designation, betaine was authorised in the EU for the treatment of homocystinuria. […] The sponsor has provided sufficient information to show that this medicine might be of significant benefit for patients with homocystinuria because studies in experimental models suggested that the medicine used together with the authorised treatment betaine could lower further homocysteine levels. […] The medicine is an enzyme replacement therapy that is expected to work by replacing the malfunctioning enzyme in homocystinuria, helping to break down homocysteine and stopping it from building up in the body.

• #2 Homocystinuria (HCY)

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

  Treatment usually includes a low protein diet and the oral medication, betaine. […] On treatment, prognosis is significantly improved.

• #2 Homocystinuria: Vitamin Deficiency Signs in Children

  https://www.verywellhealth.com/homocystinuria-7553029

  The other 50% not responding to vitamin supplementation will need to make diet modifications and take betaine, a medicine used to treat homocystinuria. […] If quickly diagnosed and treatment is prompt, there generally are good outcomes. People with the condition will need lifelong treatment with vitamin supplements and diet changes.

• #2 Homocystinuria due to cystathionine beta-synthase deficiency | MedLink Neurology

  https://www.medlink.com/articles/homocystinuria-due-to-cystathionine-beta-synthase-deficiency

  From observation in patients in whom homocystinuria was detected early and treated, some evidence indicates that presymptomatic initiation of treatment is able to prevent cognitive impairment, lens dislocation, and thromboembolic events. […] Newborn screening for cystathionine beta-synthase deficiency would represent the tool for the required timely identification of affected patients. […] Although it is not possible to draw any conclusions based on controlled studies, there are uncontrolled case series that support the efficacy of newborn screening for homocystinuria and its early treatment. […] The risk for thromboembolic events seems to be directly correlated with the plasma homocysteine concentration. Normalization of plasma homocysteine at any time seems to prevent the occurrence of new thromboembolic events, but even when normalization cannot be reached by treatment, lowering the homocysteine concentration lowers the risk for such an event. Thus, lowering homocysteine as much as possible represents the most important measure in homocystinuric patients.

• #2 What Is Homocystinuria?

  https://www.webmd.com/children/what-is-homocystinuria

  A metabolic doctor trained in genetic diseases will recommend a treatment plan. You need to start it right away to prevent problems. […] The vitamin helps prevent behavior problems and intellectual problems in some kids. It may lessen the risk of eye and bone problems and blood clots. […] If your child begins treatment as a baby and stays on it, theyll probably grow and develop normally. Treatment also can lower the risk of strokes, heart disease, and blood clots.

• #2 The Treatment of High Homocysteine Concentrations in Homocystinuria: Biochemical Control in Patients and Their Vascular Outcome | SpringerLink

  https://link.springer.com/chapter/10.1007/978-94-017-1789-2_22

  The aims of treatment must be to prevent or ameliorate particularly these life-endangering events by controlling or eliminating the severe hyperhomocysteinemia. […] Additional medical measures that do not affect the biochemical abnormalities but aim at reducing or eliminating the thrombotic tendencies have also been used. […] This clearly establishes that appropriate treatment of severe hyperhomocysteinemia significantly reduces the vascular risk in homocystinuria, albeit post-treatment homocysteine levels may still be several times higher than the cut-off point for homocysteine in the normal population. […] The present findings may have relevance to the current concept of mild hyperhomocysteinemia and its association with cardiovascular disease, in which the elevation of plasma homocysteine levels is considerably lower than the post-treatment levels reported by the three centers.

• #3 Homocystinuria: Causes, Symptoms & Diagnosis

  https://www.healthline.com/health/homocystinuria

  How Can I Keep My Child from Getting Homocystinuria? […] This disorder occurs as a result of genetic mutations. This can make it challenging to prevent. You should consider going to a genetic counselor if a history of homocystinuria runs in your family. Prospective parents can use this method to analyze the risks of having a child who inherits the disorder. […] Requesting an intrauterine diagnosis of the disorder is another possible way to prevent this condition. This requires testing a culture of amniotic cells or villi for the presence of the genetic mutation.

• #3 The Treatment of High Homocysteine Concentrations in Homocystinuria: Biochemical Control in Patients and Their Vascular Outcome | SpringerLink

  https://link.springer.com/chapter/10.1007/978-94-017-1789-2_22

  The aims of treatment must be to prevent or ameliorate particularly these life-endangering events by controlling or eliminating the severe hyperhomocysteinemia. […] Additional medical measures that do not affect the biochemical abnormalities but aim at reducing or eliminating the thrombotic tendencies have also been used. […] This clearly establishes that appropriate treatment of severe hyperhomocysteinemia significantly reduces the vascular risk in homocystinuria, albeit post-treatment homocysteine levels may still be several times higher than the cut-off point for homocysteine in the normal population. […] The present findings may have relevance to the current concept of mild hyperhomocysteinemia and its association with cardiovascular disease, in which the elevation of plasma homocysteine levels is considerably lower than the post-treatment levels reported by the three centers.

• #3 Holistic Approach in the Management of Skeletal Deformity in a Case of Homocystinuria | Journal of Orthopaedic Case Reports

  https://jocr.co.in/wp/2021/04/10/holistic-approach-in-the-management-of-skeletal-deformity-in-a-case-of-homocystinuria/

  Homocystinuria is a rare disease that needs early identification and effective management to avoid skeletal complications such as genu valgum, pes cavus, chest wall deformities, kyphosis, and scoliosis. […] Homocystinuria is a rare disease that needs early identification and effective management to avoid complications. Skeletal complications are common and include genu valgum, pes cavus, chest wall deformities, and skeletal deformities such as kyphosis and scoliosis. Skeletal deformities can be avoided when identified early and associated osteoporosis which is managed effectively. A holistic approach is needed in the management of such patients with inter-departmental coordination to bring quality to the life of patients with homocystinuria. […] Early identification and effective treatment can reduce the risk of osteoporosis in them. […] It is also a preventable complication when the condition is diagnosed early and treated appropriately.

• #3 Homocystinuria

  https://dermnetnz.org/topics/homocystinuria

  There remains no cure for homocystinuria. However, around half of patients respond to high doses of pyridoxine (B6). Skin pigmentation can return to normal. […] For those not responsive to pyridoxine, other treatments include: a low metathionine diet (this includes carrots, beets, chard, tomatoes, spinach, peppers, melons, apples, pears but excludes broccoli, mushrooms, avocados, potatoes, nuts, tofu and black or kidney beans, due to amino acid content), trimethylglycine (betaine), folic acid supplementation and adding cysteine to the diet.

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

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

  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.

• #3

  https://journals.lww.com/jopn/fulltext/2012/07020/transient_ischemic_attack_in_a_child_with.29.aspx

  Homocystinuria is a treatable autosomal recessive disorder caused due to cystathionine b-synthase deficiency which affects methionine metabolism. […] Treatment to lower the homocystine levels is effective in reducing the life-threatening vascular risk. […] Treatment with vitamin B6 significantly delayed the occurrence of the first thromboembolic event. […] Treatment to lower the homocysteine levels is effective in reducing the potentially life-threatening vascular risk and therefore, early diagnosis is very important. […] The main treatment goal is to decrease the plasma levels of homocysteine by pyridoxine, folate and vitamin B12. […] We recommend screening for homocystinuria in any child presenting with vascular events, thromboembolic episodes, and also as neonatal screening.

• #3 Homocystinuria

  https://www2.hse.ie/conditions/homocystinuria/

  If HCU is diagnosed, treatment can reduce the risk of serious complications. Treatment may include high doses of vitamin B6 (pyridoxine), a special diet and advice. […] A baby with HCU may not respond to vitamin B6. If they do not, they will be referred to a specialist metabolic dietitian. They will be given a low-protein diet to reduce the amount of methionine they receive. […] People with HCU may need to follow a modified diet for the rest of their life. As your child gets older, they’ll need to learn how to control their diet. They will need to stay in contact with a dietitian for advice and monitoring. […] Alongside a low-protein diet, your child may be prescribed a medication called betaine. This is to help clear some of the excess homocysteine. […] It’s not possible to prevent HCU. But it’s important to let your midwife and doctor know if you have a family history of the condition.

• #3 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. […] However, if homocystinuria is detected early and treatment is begun, children with homocystinuria can often lead healthy lives. […] If your baby shows any of these signs, be sure to contact your babys healthcare provider immediately. […] 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. A dietician or nutritionist can help you plan an appropriate diet for your child. […] With early and on-going 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. This is why it is important to have newborn screening for HCY. […] Because HCY is a genetic condition, you may want to talk with a genetics specialist. A genetic counselor or geneticist can help you understand the causes of the condition, discuss genetic testing for HCY, and understand what this diagnosis means for other family members and future pregnancies.

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