Materiały źródłowe

• #1 Homocystinuria diagnosis and management: it is not all classical | Journal of Clinical Pathology

  https://jcp.bmj.com/content/75/11/744

  Homocystinuria (HCU) refers to a group of inherited disorders of homocysteine metabolism associated with high blood homocysteine concentration, thromboembolic tendency and neurocognitive symptoms. […] Lowering homocysteine reverses thromboembolic risk. In HCU, this may be achieved with pyridoxine alone or with betaine as an alternative methyl donor. Some patients additionally follow a methionine-restricted diet. Betaine is the primary treatment for MTHFR and cobalamin disorders are managed with high-dose hydroxocobalamin. […] The primary goal is to maintain plasma tHCy concentration at less than 100 mol/L in adults and less than 50 mol/L in children at which thromboembolic risk is reversed, lens subluxation is halted and bone growth in children proceeds normally. […] The CBS enzyme uses pyridoxal 5-phosphate as a cofactor. Approximately 50% of patients with HCU respond partially or wholly to high-dose pyridoxine (vitamin B6).

• #2 Step 4: What Treatments are Available? – HCU Network America

  https://hcunetworkamerica.org/step-4-what-treatments-are-available/

  There is no cure for Homocystinuria at this time, but treatment is available that may be able to keep the disease under control and avoid or lessen symptoms. Treatment should be started from the time of diagnoses and continued for life. […] Your treatment will vary greatly depending on your specific diagnosis, your amount of active enzyme, your age, height, activity level, your other health issues, and your metabolic rate. Because many factors can play into your homocysteine and methionine levels, it is important that you follow up with your metabolic specialist or geneticist on a regular basis (they will decide how often is right for you). […] The guidelines recommend patients with CBS deficient Homocystinuria who are responsive to pyridoxine to achieve tHCY under 50 μmol/L, and for those who are unresponsive to pyridoxine to achieve tHCY levels under 100 μmol/L. Some clinicians aim for lower levels.

• #3 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.

• #4 Homocystinuria: Therapeutic approach – PubMed

  https://pubmed.ncbi.nlm.nih.gov/27059523/

  Homocystinuria is a disorder of sulfur metabolism pathway caused by deficiency of cystathionine -synthase (CBS). It is characterized by increased accumulation of homocysteine (Hcy) in the cells and plasma. Increased homocysteine results in various vascular and neurological complications. Present strategies to lower cellular and plasma homocysteine levels include vitamin B6 intake, dietary methionine restriction, betaine supplementation, folate and vitamin B12 administration. However, these strategies are inefficient for treatment of homocystinuria. […] In recent years, advances have been made towards developing new strategies to treat homocystinuria. These mainly include functional restoration to mutant CBS, enhanced clearance of Hcy from the body, prevention of N-homocysteinylation-induced toxicity and inhibition of homocysteine-induced oxidative stress. […] The review is an attempt to help clinicians in developing effective therapeutic strategies and designing novel drugs against homocystinuria.

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

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

  Pyridoxine, at a dose of 100500 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. Secondary stroke prevention rests on risk factor reduction. Aspirin, clopidogrel, and aspirin-dipyridamole have been suggested for secondary stroke prophylaxis, but whether other antiplatelet agents or anticoagulation are equally or more effective is not known. […] 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.

• #6 HIE Multimedia – Homocystinuria

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

  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). […] Neither a low-methionine diet nor medicine will improve existing intellectual disability. Medicine and diet should be closely monitored by a doctor who has experience treating homocystinuria. […] Although no cure exists for homocystinuria, vitamin B therapy can help about half of people affected by the condition. […] If the diagnosis is made in childhood, starting a low-methionine diet quickly may prevent some intellectual disability and other complications of the disease.

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

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

  Pyridoxine, at a dose of 100500 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. Secondary stroke prevention rests on risk factor reduction. Aspirin, clopidogrel, and aspirin-dipyridamole have been suggested for secondary stroke prophylaxis, but whether other antiplatelet agents or anticoagulation are equally or more effective is not known. […] 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.

• #8 HIE Multimedia – Homocystinuria

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

  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). […] Neither a low-methionine diet nor medicine will improve existing intellectual disability. Medicine and diet should be closely monitored by a doctor who has experience treating homocystinuria. […] Although no cure exists for homocystinuria, vitamin B therapy can help about half of people affected by the condition. […] If the diagnosis is made in childhood, starting a low-methionine diet quickly may prevent some intellectual disability and other complications of the disease.

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

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

  Pyridoxine, at a dose of 100500 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. Secondary stroke prevention rests on risk factor reduction. Aspirin, clopidogrel, and aspirin-dipyridamole have been suggested for secondary stroke prophylaxis, but whether other antiplatelet agents or anticoagulation are equally or more effective is not known. […] 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.

• #10 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. […] 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. […] In some babies, it’s possible to control the levels of homocysteine with vitamin B6 (pyridoxine). If this works, your child will need to take vitamin B6 supplements for the rest of their 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. […] 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.

• #11 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.

• #12 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.

• #13 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. […] There are two types of HCY. The milder version can be treated with prescription-strength vitamin B6 supplements. Your babys doctor may perform tests to see if they will be likely to help. […] If vitamin B6 doesnt work, your child will start a low-methionine diet. It usually needs to be continued for life. A dietitian with expertise in amino acid disorders can help make an eating plan from infancy and beyond. […] Your child probably will have to avoid high protein foods, including: Cows milk, Cheese, Meat and fish, Eggs. […] Your child probably will need a special formula to replace milk. It has protein (minus the methionine) and other nutrients needed for normal growth.

• #14 Homocystinuria: Causes, symptoms, and tests

  https://www.medicalnewstoday.com/articles/318526

  There is no cure for homocystinuria. However, it is possible to manage the condition with dietary restrictions, supplements, and medication. […] High dosages of vitamin B-6 supplements have been helpful for some people. Most individuals with the disorder will need to take these supplements for the rest of their lives. […] Another treatment option is betaine, which is a nutrient that helps remove homocysteine from the bloodstream. Taking folic acid with betaine might also be beneficial. […] Individuals who do not respond to vitamin B-6 treatments should follow a low methionine diet. They will need to avoid foods that contain high levels of the amino acid methionine, such as: some meats and fish, eggs, soy, dairy, nuts and beans. […] Although there is no cure for homocystinuria, treatments are available to help people manage the condition.

• #15 Homocystinuria: Causes, symptoms, and tests

  https://www.medicalnewstoday.com/articles/318526

  There is no cure for homocystinuria. However, it is possible to manage the condition with dietary restrictions, supplements, and medication. […] High dosages of vitamin B-6 supplements have been helpful for some people. Most individuals with the disorder will need to take these supplements for the rest of their lives. […] Another treatment option is betaine, which is a nutrient that helps remove homocysteine from the bloodstream. Taking folic acid with betaine might also be beneficial. […] Individuals who do not respond to vitamin B-6 treatments should follow a low methionine diet. They will need to avoid foods that contain high levels of the amino acid methionine, such as: some meats and fish, eggs, soy, dairy, nuts and beans. […] Although there is no cure for homocystinuria, treatments are available to help people manage the condition.

• #16 Step 4: What Treatments are Available? – HCU Network America

  https://hcunetworkamerica.org/step-4-what-treatments-are-available/

  About half of the CBS deficient Homocystinuria population is responsive to pyridoxine or Vitamin B6. These patients can supplement only B6 and may achieve target levels of tHcy and avoid symptoms. Although there are some fully responsive patients, many responsive patients are partial responders and will require additional treatments. […] The remaining patients are not B6 responsive. These patients will need a combination of therapies. […] Dietary restriction of protein is recommended if target tHcy levels are not achieved with pyridoxine supplementation. The amount of protein recommended depends upon the amount of active enzyme patients have and their response to therapies. For those on a low protein diet, there are special low protein foods such as pasta and bread that a patient can consume. In addition to food, the patient will need to supplement with a dietary metabolic formula. This special formula will give them all the essential nutrients their body needs, including the other essential amino acids they lack due to the low protein diet. This formula is methionine free and often ordered especially for the patient.

• #17 Application | Homocystinuria | Comidamed

  https://www.comidamed.com/en/applications-homocystinuria

  Prompt detection and treatment of HCys are important in preventing or reducing the symptoms associated with the disorder. […] Treatment aims to prevent complications by lowering plasma homocysteine concentration, and avoidance of abnormally low methionine concentration. Some patients respond to therapy with pyridoxine (vitamin B6). The dietary management consists of a methionine restricted diet with betaine supplementation. […] A formula is an amino acid mixture, free from methionine, supplemented with vitamins, minerals and trace elements, and provides energy from fat and carbohydrates appropriate to the different age groups.

• #18 Step 4: What Treatments are Available? – HCU Network America

  https://hcunetworkamerica.org/step-4-what-treatments-are-available/

  About half of the CBS deficient Homocystinuria population is responsive to pyridoxine or Vitamin B6. These patients can supplement only B6 and may achieve target levels of tHcy and avoid symptoms. Although there are some fully responsive patients, many responsive patients are partial responders and will require additional treatments. […] The remaining patients are not B6 responsive. These patients will need a combination of therapies. […] Dietary restriction of protein is recommended if target tHcy levels are not achieved with pyridoxine supplementation. The amount of protein recommended depends upon the amount of active enzyme patients have and their response to therapies. For those on a low protein diet, there are special low protein foods such as pasta and bread that a patient can consume. In addition to food, the patient will need to supplement with a dietary metabolic formula. This special formula will give them all the essential nutrients their body needs, including the other essential amino acids they lack due to the low protein diet. This formula is methionine free and often ordered especially for the patient.

• #19 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.

• #20 Step 4: What Treatments are Available? – HCU Network America

  https://hcunetworkamerica.org/step-4-what-treatments-are-available/

  Vitamin B12 and folate are also usually recommended. For those who do not achieve targets with diet alone, a medication called Cystadane is added (also known as Betaine Anhydrous, and Trimethylglycine (TMG)), which helps to metabolize some of the homocysteine. […] Patients with severe MTHFR are treated with the medication Betaine (Cystadane ®). Some will be supplemented with folate (or folinic acid), vitamin B12, and other vitamins. […] Therapies for the cobalamin disorders focus on reducing homocysteine with betaine (Cystadane ®). Many will need hydroxycobalamin (injection into the muscle in the leg or arm). Sometimes individuals will be given folate or levocarnitine as well.

• #21 Homocystinuria – Wikipedia

  https://en.wikipedia.org/wiki/Homocystinuria

  No specific cure has been discovered for homocystinuria; however, many people are treated using high doses of vitamin B6 (also known as pyridoxine). Slightly less than 50% respond to this treatment and need to take supplemental vitamin B6 for the rest of their lives. Those who do not respond usually respond to supplementation with folic acid and trimethylglycine (betaine). Typically this is mediated by cystathionine beta-synthase activity, i.e. those who have adequate CBS activity typically respond to B6. Occasionally adding cysteine to the diet can be helpful, as glutathione is synthesized from cysteine (so adding cysteine can be important to reduce oxidative stress). Riboflavin, a cofactor for the MTHFR enzyme pathway and multiple glutathione-related pathways, may also be used. […] Betaine (N,N,N-trimethylglycine) is used to reduce concentrations of homocysteine by promoting the conversion of homocysteine back to methionine, i.e., increasing flux through the re-methylation pathway independent of folate derivatives (which is mainly active in the liver and in the kidneys). The re-formed methionine is then gradually removed by incorporation into body protein. The methionine that is not converted into protein is converted to S-adenosyl-methionine which goes on to form homocysteine again. Betaine is, therefore, only effective if the quantity of methionine to be removed is small. Hence treatment includes both betaine and a diet low in methionine. In classical homocystinuria (CBS, or cystathione beta synthase deficiency), the plasma methionine level usually increases above the normal range of 30 micromoles/L and the concentrations should be monitored as potentially toxic levels (more than 400 micromoles/L) may be reached.

• #22 Betaine anhydrous in homocystinuria: results from the RoCH registry | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1036-2

  The results of this registry provide real-world information on the use of betaine anhydrous in the management of homocystinuria in clinical practice. Betaine anhydrous was associated with decreased total plasma homocysteine, increased methionine, and improvement/stabilisation of the clinical symptoms of different disorders associated with homocystinuria in the treated population. […] Overall, betaine anhydrous was well tolerated, with interstitial lung disease being the only serious AE reported in one patient that was considered likely to be associated with treatment. […] In this RoCH registry study, betaine anhydrous treatment decreased total plasma homocysteine levels below the recommended 100mol/L in the total study population, regardless of the nature of the deficiency (79.0746.51mol/L vs 111.2970.31mol/L at baseline), and the clinical symptoms of disorders associated with homocystinuria either improved or stabilised in the majority of patients during the study period. […] The recommended total daily dose of betaine anhydrous in adult and paediatric patients 10years of age is 6g/day.

• #23 Betaine anhydrous in homocystinuria: results from the RoCH registry | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1036-2

  The results of this registry provide real-world information on the use of betaine anhydrous in the management of homocystinuria in clinical practice. Betaine anhydrous was associated with decreased total plasma homocysteine, increased methionine, and improvement/stabilisation of the clinical symptoms of different disorders associated with homocystinuria in the treated population. […] Overall, betaine anhydrous was well tolerated, with interstitial lung disease being the only serious AE reported in one patient that was considered likely to be associated with treatment. […] In this RoCH registry study, betaine anhydrous treatment decreased total plasma homocysteine levels below the recommended 100mol/L in the total study population, regardless of the nature of the deficiency (79.0746.51mol/L vs 111.2970.31mol/L at baseline), and the clinical symptoms of disorders associated with homocystinuria either improved or stabilised in the majority of patients during the study period. […] The recommended total daily dose of betaine anhydrous in adult and paediatric patients 10years of age is 6g/day.

• #24 Homocystinuria – Wikipedia

  https://en.wikipedia.org/wiki/Homocystinuria

  No specific cure has been discovered for homocystinuria; however, many people are treated using high doses of vitamin B6 (also known as pyridoxine). Slightly less than 50% respond to this treatment and need to take supplemental vitamin B6 for the rest of their lives. Those who do not respond usually respond to supplementation with folic acid and trimethylglycine (betaine). Typically this is mediated by cystathionine beta-synthase activity, i.e. those who have adequate CBS activity typically respond to B6. Occasionally adding cysteine to the diet can be helpful, as glutathione is synthesized from cysteine (so adding cysteine can be important to reduce oxidative stress). Riboflavin, a cofactor for the MTHFR enzyme pathway and multiple glutathione-related pathways, may also be used. […] Betaine (N,N,N-trimethylglycine) is used to reduce concentrations of homocysteine by promoting the conversion of homocysteine back to methionine, i.e., increasing flux through the re-methylation pathway independent of folate derivatives (which is mainly active in the liver and in the kidneys). The re-formed methionine is then gradually removed by incorporation into body protein. The methionine that is not converted into protein is converted to S-adenosyl-methionine which goes on to form homocysteine again. Betaine is, therefore, only effective if the quantity of methionine to be removed is small. Hence treatment includes both betaine and a diet low in methionine. In classical homocystinuria (CBS, or cystathione beta synthase deficiency), the plasma methionine level usually increases above the normal range of 30 micromoles/L and the concentrations should be monitored as potentially toxic levels (more than 400 micromoles/L) may be reached.

• #25 Homocystinuria – Wikipedia

  https://en.wikipedia.org/wiki/Homocystinuria

  No specific cure has been discovered for homocystinuria; however, many people are treated using high doses of vitamin B6 (also known as pyridoxine). Slightly less than 50% respond to this treatment and need to take supplemental vitamin B6 for the rest of their lives. Those who do not respond usually respond to supplementation with folic acid and trimethylglycine (betaine). Typically this is mediated by cystathionine beta-synthase activity, i.e. those who have adequate CBS activity typically respond to B6. Occasionally adding cysteine to the diet can be helpful, as glutathione is synthesized from cysteine (so adding cysteine can be important to reduce oxidative stress). Riboflavin, a cofactor for the MTHFR enzyme pathway and multiple glutathione-related pathways, may also be used. […] Betaine (N,N,N-trimethylglycine) is used to reduce concentrations of homocysteine by promoting the conversion of homocysteine back to methionine, i.e., increasing flux through the re-methylation pathway independent of folate derivatives (which is mainly active in the liver and in the kidneys). The re-formed methionine is then gradually removed by incorporation into body protein. The methionine that is not converted into protein is converted to S-adenosyl-methionine which goes on to form homocysteine again. Betaine is, therefore, only effective if the quantity of methionine to be removed is small. Hence treatment includes both betaine and a diet low in methionine. In classical homocystinuria (CBS, or cystathione beta synthase deficiency), the plasma methionine level usually increases above the normal range of 30 micromoles/L and the concentrations should be monitored as potentially toxic levels (more than 400 micromoles/L) may be reached.

• #26 What Is Homocystinuria?

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

  Your doctor may decide to add a supplement too: Betaine and folic acid. These supplements can lower dangerously high homocysteine levels. Children who dont get better with vitamin B6 often respond well to betaine. […] Your childs blood and urine will be tested regularly to make sure treatment is working. Sometimes it needs to be tweaked as your child grows and changes. […] 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.

• #27 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. […] Treatment depends on the underlying cause of homocystinuria. As a first step, pyridoxine (vitamin B6) responsiveness should be ascertained, because approximately 50% of patients respond to large doses of this vitamin. Nonresponsive patients with CBS deficiency should be treated with a methionine-restricted, cystine-supplemented diet. Folic acid and betaine therapy may also be helpful with all patients. […] Clinical variability remains despite therapy. Not all affected individuals have increased methionine concentrations. […] Individuals who are clinically responsive to pyridoxine generally have milder or more slowly progressive disease.

• #28 HIE Multimedia – Homocystinuria

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

  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). […] Neither a low-methionine diet nor medicine will improve existing intellectual disability. Medicine and diet should be closely monitored by a doctor who has experience treating homocystinuria. […] Although no cure exists for homocystinuria, vitamin B therapy can help about half of people affected by the condition. […] If the diagnosis is made in childhood, starting a low-methionine diet quickly may prevent some intellectual disability and other complications of the disease.

• #29 Homocystinuria – ThinkGenetic Foundation

  https://thinkgenetic.org/diseases/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. You can find a medical geneticist near you by using the Genetic Services Search Engine on the American College of Medical Genetics website. To find a genetic counselor near you, use the Find a Genetic Counselor tool on the National Society of Genetic Counselors website.

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

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

  No consensus exists on optimal approaches to the treatment of homocysteinemia. Plasma homocysteine levels are reduced by folic acid supplementation. With the mandated fortification of cereals with folic acid in the United States, B12 deficiency (or relative B12 deficiency) may influence homocysteinemia. The optimal dose and route of administration of B12 and dose of folic acid and the effect on clinical outcome have not been studied prospectively. Initiation of therapy with B12, folic acid, and B6 tends to normalize homocysteine in 48 weeks. […] 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.

• #31 Current and Novel Therapeutical Approaches of Classical Homocystinuria in Childhood With Special Focus on Enzyme Replacement Therapy, Liver-Directed Therapy and Gene Therapy

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9990725/

  Classical homocystinuria is a hereditary defect of the enzyme cystathionine beta synthase, which is produced in the liver. […] This review focus on present and new therapeutical approaches like the role of enzyme replacement with presentation of different novel targets in research like pegtibatinase, pegtarviliase, CDX-6512, erymethionase, chaperones, proteasome inhibitors and probiotic treatment with SYNB 1353. […] There are different treatment modalities and ongoing research studies concentrating on new treatment options. […] Pyridoxine-responsive cases are treated with pharmacological doses of pyridoxine, vitamin D, and additional administration of folic acid and vitamin B12. […] The advantage of enzyme replacement therapy is controlled blood levels temporarily in HCU patients. […] Enzyme replacement therapy includes studies with pegtibatinase (OT-58, TVT-058).

• #32 Classical HCU Therapeutic Avenues – HCU Network America

  https://hcunetworkamerica.org/classical-hcu-research/therapeutic-avenues/

  The current therapeutic objective is described in the Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. […] There are several approaches being investigated for the treatment of classical homocystinuria. […] Enzyme replacement therapy (ERT) is a treatment that replaces an enzyme in a patient where the enzyme is defective due to a genetic defect. The product currently in development for classical homocystinuria, pegtibatinase (Sponsor: Travere Therapeutics), is a synthetic recombinant version of the cysteine beta synthase or CBS enzyme and is expected to be administered by subcutaneous injection. This enzyme is designed to do what CBS does, convert homocysteine directly to cysteine, to hopefully restore the normal biochemical pathway. […] An engineered methionine-gamma-lyase enzyme is being developed by Syntis, SYNT 202. This is an orally administered, GI-stable therapeutic enzyme to potentially treat HCU by degrading methionine from food/protein intake in the GI tract, so that the methionine is not absorbed and converted to homocysteine.

• #33 Current and Novel Therapeutical Approaches of Classical Homocystinuria in Childhood With Special Focus on Enzyme Replacement Therapy, Liver-Directed Therapy and Gene Therapy

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9990725/

  First results showed a 55% reduction of total homocysteine and a good toleration after 12 weeks. […] Moreover, erymethionase seems to have a significant potential in HCU patients by reducing both levels of homocysteine and methionine in blood plasma, which is critical in restoration of a metabolic balance in patients with HCU. […] Correction of the enzyme misfolding represents an alternative therapeutic option for HCU. […] Treatment variants for HCU are limited due to efficacy and tolerability. […] A bioprinter is a special form of 3D printer, which is computer-controlled to produce regular structures, so-called bioarrays, or tissue from previously grown individual cells using tissue engineering techniques. […] Liver transplantation was performed successfully in six pediatric and also adult patients, whereas one 24 years old man with HCU was cured after liver transplantation and did not receive any drugs or restrictive diet after surgery.

• #34 Classical HCU Therapeutic Avenues – HCU Network America

  https://hcunetworkamerica.org/classical-hcu-research/therapeutic-avenues/

  The current therapeutic objective is described in the Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. […] There are several approaches being investigated for the treatment of classical homocystinuria. […] Enzyme replacement therapy (ERT) is a treatment that replaces an enzyme in a patient where the enzyme is defective due to a genetic defect. The product currently in development for classical homocystinuria, pegtibatinase (Sponsor: Travere Therapeutics), is a synthetic recombinant version of the cysteine beta synthase or CBS enzyme and is expected to be administered by subcutaneous injection. This enzyme is designed to do what CBS does, convert homocysteine directly to cysteine, to hopefully restore the normal biochemical pathway. […] An engineered methionine-gamma-lyase enzyme is being developed by Syntis, SYNT 202. This is an orally administered, GI-stable therapeutic enzyme to potentially treat HCU by degrading methionine from food/protein intake in the GI tract, so that the methionine is not absorbed and converted to homocysteine.

• #35 Current and Novel Therapeutical Approaches of Classical Homocystinuria in Childhood With Special Focus on Enzyme Replacement Therapy, Liver-Directed Therapy and Gene Therapy

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9990725/

  Classical homocystinuria is a hereditary defect of the enzyme cystathionine beta synthase, which is produced in the liver. […] This review focus on present and new therapeutical approaches like the role of enzyme replacement with presentation of different novel targets in research like pegtibatinase, pegtarviliase, CDX-6512, erymethionase, chaperones, proteasome inhibitors and probiotic treatment with SYNB 1353. […] There are different treatment modalities and ongoing research studies concentrating on new treatment options. […] Pyridoxine-responsive cases are treated with pharmacological doses of pyridoxine, vitamin D, and additional administration of folic acid and vitamin B12. […] The advantage of enzyme replacement therapy is controlled blood levels temporarily in HCU patients. […] Enzyme replacement therapy includes studies with pegtibatinase (OT-58, TVT-058).

• #36 Current and Novel Therapeutical Approaches of Classical Homocystinuria in Childhood With Special Focus on Enzyme Replacement Therapy, Liver-Directed Therapy and Gene Therapy | Bittmann | Journal of Clinical Medicine Research

  https://www.jocmr.org/index.php/JOCMR/article/view/4843/25893677

  Current and Novel Therapeutical Approaches of Classical Homocystinuria in Childhood With Special Focus on Enzyme Replacement Therapy, Liver-Directed Therapy and Gene Therapy […] This review focus on present and new therapeutical approaches like the role of enzyme replacement with presentation of different novel targets in research like pegtibatinase, pegtarviliase, CDX-6512, erymethionase, chaperones, proteasome inhibitors and probiotic treatment with SYNB 1353. […] The advantage of enzyme replacement therapy is controlled blood levels temporarily in HCU patients. Disadvantages of this therapy includes the life-long therapy with these drugs, and therefore is a very expensive therapy at all. Enzyme replacement therapy includes studies with pegtibatinase (OT-58, TVT-058). […] Another enzyme replacement drug, pegtarviliase, is studied in the USA in a phase 1/2 study and is applicated weekly with one dose over 4 weeks.

• #37 Current and Novel Therapeutical Approaches of Classical Homocystinuria in Childhood With Special Focus on Enzyme Replacement Therapy, Liver-Directed Therapy and Gene Therapy

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9990725/

  First results showed a 55% reduction of total homocysteine and a good toleration after 12 weeks. […] Moreover, erymethionase seems to have a significant potential in HCU patients by reducing both levels of homocysteine and methionine in blood plasma, which is critical in restoration of a metabolic balance in patients with HCU. […] Correction of the enzyme misfolding represents an alternative therapeutic option for HCU. […] Treatment variants for HCU are limited due to efficacy and tolerability. […] A bioprinter is a special form of 3D printer, which is computer-controlled to produce regular structures, so-called bioarrays, or tissue from previously grown individual cells using tissue engineering techniques. […] Liver transplantation was performed successfully in six pediatric and also adult patients, whereas one 24 years old man with HCU was cured after liver transplantation and did not receive any drugs or restrictive diet after surgery.

• #38 Current and Novel Therapeutical Approaches of Classical Homocystinuria in Childhood With Special Focus on Enzyme Replacement Therapy, Liver-Directed Therapy and Gene Therapy | Bittmann | Journal of Clinical Medicine Research

  https://www.jocmr.org/index.php/JOCMR/article/view/4843/25893677

  Further studies focus on CDX-6512, a modified human cystathionine gamma lyase. […] Moreover, erymethionase seems to have a significant potential in HCU patients by reducing both levels of homocysteine and methionine in blood plasma, which is critical in restoration of a metabolic balance in patients with HCU. […] Treatment variants for HCU are limited due to efficacy and tolerability. SYNB 1353 is a strain of the probiotic bacteria Escherichia coli (E. coli) type Nissle, which consumes methionine within the gastrointestinal pathway, preventing methionine absorption and conversion to homocysteine in plasma of the patient with HCU. […] A very interesting aspect curing the disease is based on liver-directed therapy like 3-D-bioprinting and liver bioengineering. […] Liver transplantation was performed successfully in six pediatric and also adult patients, whereas one 24 years old man with HCU was cured after liver transplantation and did not receive any drugs or restrictive diet after surgery.

• #39 Current and Novel Therapeutical Approaches of Classical Homocystinuria in Childhood With Special Focus on Enzyme Replacement Therapy, Liver-Directed Therapy and Gene Therapy | Bittmann | Journal of Clinical Medicine Research

  https://www.jocmr.org/index.php/JOCMR/article/view/4843/25893677

  Further studies focus on CDX-6512, a modified human cystathionine gamma lyase. […] Moreover, erymethionase seems to have a significant potential in HCU patients by reducing both levels of homocysteine and methionine in blood plasma, which is critical in restoration of a metabolic balance in patients with HCU. […] Treatment variants for HCU are limited due to efficacy and tolerability. SYNB 1353 is a strain of the probiotic bacteria Escherichia coli (E. coli) type Nissle, which consumes methionine within the gastrointestinal pathway, preventing methionine absorption and conversion to homocysteine in plasma of the patient with HCU. […] A very interesting aspect curing the disease is based on liver-directed therapy like 3-D-bioprinting and liver bioengineering. […] Liver transplantation was performed successfully in six pediatric and also adult patients, whereas one 24 years old man with HCU was cured after liver transplantation and did not receive any drugs or restrictive diet after surgery.

• #40 Synlogic Announces SYNB1353 Achieves Proof of Mechanism for Treatment of Homocystinuria and Provides Business Update – Synlogic

  https://investor.synlogictx.com/news-releases/news-release-details/synlogic-announces-synb1353-achieves-proof-mechanism-treatment

  Synlogic Announces SYNB1353 Achieves Proof of Mechanism for Treatment of Homocystinuria and Provides Business Update […] SYNB1353 has been granted Orphan Drug Designation (ODD) from the FDA for the treatment of homocystinuria (HCU) […] SYNB1353 is an orally administered, non-systemically absorbed drug candidate designed to consume methionine in the GI tract for the potential treatment of homocystinuria (HCU). […] The goal in treating HCU is to reduce and control severely elevated levels of total homocysteine (tHcy), thereby reducing risk of acute, potentially life-threatening blood clots and chronic, multisystem complications. A diet low in methionine, a precursor to homocysteine, is standard in HCU; SYNB1353 is engineered to metabolize methionine in the GI tract to prevent its absorption and conversion into homocysteine.

• #41 Synlogic Announces SYNB1353 Achieves Proof of Mechanism for Treatment of Homocystinuria and Provides Business Update – Synlogic

  https://investor.synlogictx.com/news-releases/news-release-details/synlogic-announces-synb1353-achieves-proof-mechanism-treatment

  SYNB1353 is a novel, orally administered, non-systemically absorbed drug candidate designed to lower homocysteine levels in patients with HCU by consuming methionine, a precursor to homocysteine, in the gastrointestinal tract. […] The U.S. Food and Drug Administration (FDA) granted Fast Track designation and Orphan Drug Designation (ODD) to SYNB1353 for the potential treatment of HCU. […] Synlogic has also developed two drug candidates through a research collaboration with Ginkgo Bioworks: SYNB1353, designed to consume methionine for the potential treatment of HCU, and SYNB2081, designed to lower uric acid for the potential treatment of gout.

• #42 Current and Novel Therapeutical Approaches of Classical Homocystinuria in Childhood With Special Focus on Enzyme Replacement Therapy, Liver-Directed Therapy and Gene Therapy

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9990725/

  Gene therapy could play an important role in the future to treat HCU in a curable aspect. […] Current treatment options for classical HCU are very limited and often inefficient, partially due to a low patient compliance with very strict dietary regimen, especially in children. […] New therapeutical approaches are initiated and are in study to deal with the immense accumulation of homocysteine and to develop a healthy metabolic balance.

• #43 Current and Novel Therapeutical Approaches of Classical Homocystinuria in Childhood With Special Focus on Enzyme Replacement Therapy, Liver-Directed Therapy and Gene Therapy | Bittmann | Journal of Clinical Medicine Research

  https://www.jocmr.org/index.php/JOCMR/article/view/4843/25893677

  Gene therapy could play an important role in the future to treat HCU in a curable aspect. But at all, gene therapeutical aspects are still in childhood shoes and should urgently further evaluated in detail. […] Current treatment options for classical HCU are very limited and often inefficient, partially due to a low patient compliance with very strict dietary regimen, especially in children. New therapeutical approaches are initiated and are in study to deal with the immense accumulation of homocysteine and to develop a healthy metabolic balance. […] Enzyme replacement therapies are based on a long-life substitution of a recombinant enzyme that takes the function of the disturbed cystathionine beta synthase in the pediatric patient.

• #44 Classical HCU Therapeutic Avenues – HCU Network America

  https://hcunetworkamerica.org/classical-hcu-research/therapeutic-avenues/

  Gene therapy is a treatment approach that involves delivering genetic material (DNA) into a persons cells to compensate for defective genes. […] Gene editing is a treatment approach the involves delivering a technology that acts like scissors and cuts the DNA at a specific spot where the defect occurs, and then delivering healthy DNA to replace it so that the cells in the body can transcribe the DNA and produce the CBS enzyme. […] Small molecules can be chemically synthesized and often taken in tablet or capsule form, in contrast to enzymes or other biologics, which are made via living organisms and too large to be taken in tablet or capsule form so require injection or infusion. […] Research has shown that the administration of a metabolic compound called formate can reduce levels of homocysteine in mice, especially when combined with betaine.

• #45 Current and Novel Therapeutical Approaches of Classical Homocystinuria in Childhood With Special Focus on Enzyme Replacement Therapy, Liver-Directed Therapy and Gene Therapy

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9990725/

  First results showed a 55% reduction of total homocysteine and a good toleration after 12 weeks. […] Moreover, erymethionase seems to have a significant potential in HCU patients by reducing both levels of homocysteine and methionine in blood plasma, which is critical in restoration of a metabolic balance in patients with HCU. […] Correction of the enzyme misfolding represents an alternative therapeutic option for HCU. […] Treatment variants for HCU are limited due to efficacy and tolerability. […] A bioprinter is a special form of 3D printer, which is computer-controlled to produce regular structures, so-called bioarrays, or tissue from previously grown individual cells using tissue engineering techniques. […] Liver transplantation was performed successfully in six pediatric and also adult patients, whereas one 24 years old man with HCU was cured after liver transplantation and did not receive any drugs or restrictive diet after surgery.

• #46 Current and Novel Therapeutical Approaches of Classical Homocystinuria in Childhood With Special Focus on Enzyme Replacement Therapy, Liver-Directed Therapy and Gene Therapy | Bittmann | Journal of Clinical Medicine Research

  https://www.jocmr.org/index.php/JOCMR/article/view/4843/25893677

  Further studies focus on CDX-6512, a modified human cystathionine gamma lyase. […] Moreover, erymethionase seems to have a significant potential in HCU patients by reducing both levels of homocysteine and methionine in blood plasma, which is critical in restoration of a metabolic balance in patients with HCU. […] Treatment variants for HCU are limited due to efficacy and tolerability. SYNB 1353 is a strain of the probiotic bacteria Escherichia coli (E. coli) type Nissle, which consumes methionine within the gastrointestinal pathway, preventing methionine absorption and conversion to homocysteine in plasma of the patient with HCU. […] A very interesting aspect curing the disease is based on liver-directed therapy like 3-D-bioprinting and liver bioengineering. […] Liver transplantation was performed successfully in six pediatric and also adult patients, whereas one 24 years old man with HCU was cured after liver transplantation and did not receive any drugs or restrictive diet after surgery.

• #47 Current and Novel Therapeutical Approaches of Classical Homocystinuria in Childhood With Special Focus on Enzyme Replacement Therapy, Liver-Directed Therapy and Gene Therapy | Bittmann | Journal of Clinical Medicine Research

  https://www.jocmr.org/index.php/JOCMR/article/view/4843/25893677

  Further studies focus on CDX-6512, a modified human cystathionine gamma lyase. […] Moreover, erymethionase seems to have a significant potential in HCU patients by reducing both levels of homocysteine and methionine in blood plasma, which is critical in restoration of a metabolic balance in patients with HCU. […] Treatment variants for HCU are limited due to efficacy and tolerability. SYNB 1353 is a strain of the probiotic bacteria Escherichia coli (E. coli) type Nissle, which consumes methionine within the gastrointestinal pathway, preventing methionine absorption and conversion to homocysteine in plasma of the patient with HCU. […] A very interesting aspect curing the disease is based on liver-directed therapy like 3-D-bioprinting and liver bioengineering. […] Liver transplantation was performed successfully in six pediatric and also adult patients, whereas one 24 years old man with HCU was cured after liver transplantation and did not receive any drugs or restrictive diet after surgery.

• #48 Current and Novel Therapeutical Approaches of Classical Homocystinuria in Childhood With Special Focus on Enzyme Replacement Therapy, Liver-Directed Therapy and Gene Therapy

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9990725/

  First results showed a 55% reduction of total homocysteine and a good toleration after 12 weeks. […] Moreover, erymethionase seems to have a significant potential in HCU patients by reducing both levels of homocysteine and methionine in blood plasma, which is critical in restoration of a metabolic balance in patients with HCU. […] Correction of the enzyme misfolding represents an alternative therapeutic option for HCU. […] Treatment variants for HCU are limited due to efficacy and tolerability. […] A bioprinter is a special form of 3D printer, which is computer-controlled to produce regular structures, so-called bioarrays, or tissue from previously grown individual cells using tissue engineering techniques. […] Liver transplantation was performed successfully in six pediatric and also adult patients, whereas one 24 years old man with HCU was cured after liver transplantation and did not receive any drugs or restrictive diet after surgery.

• #49 Homocystinuria: Treatment With N-Acetylcysteine

  https://ctv.veeva.com/study/homocystinuria-treatment-with-n-acetylcysteine

  The purpose of this study is determine if oral N-acetylcysteine is effective in lowering homocysteine in individuals with homocystinuria. […] An open-label pilot study of N-acetylcysteine (NAC) to lower plasma homocysteine levels in those that have not responded to conventional treatment which includes betaine (Cystadane, Orphan Medical Inc.), which while lowering Hcy levels does not normalize it, and is very expensive. There are no known contraindications to NAC used for nutritional supplementation and it is relatively inexpensive. […] Oral NAC has reduced total plasma homocysteine in healthy subjects in a dose-dependent fashion.

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

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

  No consensus exists on optimal approaches to the treatment of homocysteinemia. Plasma homocysteine levels are reduced by folic acid supplementation. With the mandated fortification of cereals with folic acid in the United States, B12 deficiency (or relative B12 deficiency) may influence homocysteinemia. The optimal dose and route of administration of B12 and dose of folic acid and the effect on clinical outcome have not been studied prospectively. Initiation of therapy with B12, folic acid, and B6 tends to normalize homocysteine in 48 weeks. […] 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.

• #51 Homocystinuria: Vitamin Deficiency Signs in Children

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

  Homocystinuria can cause serious complications if treatment is delayed. Healthcare providers will treat complications based on symptoms and the severity of the event. […] Blood clots are one of the most serious complications of homocystinuria. Treatment will depend on where the blood clot is located. […] Another complication is the dislocation of the eye lens. Treatment involves lens replacement surgery. […] 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.

• #52 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. […] 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. […] In some babies, it’s possible to control the levels of homocysteine with vitamin B6 (pyridoxine). If this works, your child will need to take vitamin B6 supplements for the rest of their 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. […] 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.

• #53 What Is Homocystinuria?

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

  Your doctor may decide to add a supplement too: Betaine and folic acid. These supplements can lower dangerously high homocysteine levels. Children who dont get better with vitamin B6 often respond well to betaine. […] Your childs blood and urine will be tested regularly to make sure treatment is working. Sometimes it needs to be tweaked as your child grows and changes. […] 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.

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

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

  Betaine and folic acid are other natural vitamin supplements that can help lower the dangerously high homocystine levels in individuals with HCY. Your baby’s doctor can also write a prescription for these supplements. […] Vitamin B12 injections or L-cysteine supplements may help your child if they have low levels of these substances due to HCY. Vitamin B12 is a natural vitamin, and L-cysteine is a substance found in proteins. Talk to your baby’s healthcare provider before starting this type of treatment. […] 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. […] Some children who receive treatment still experience vision trouble, but this can be corrected. […] Children who do not receive treatment for HCY may develop behavioral difficulties, learning disabilities, or intellectual disabilities.

• #55 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. Folic acid and B 12 supplements may be beneficial for some patients. Anticoagulants may also be indicated, but not typically for infants. Some individuals with HCU may respond to vitamin B 6 (pyridoxine) supplements. […] 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. 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. […] 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.

• #56 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

  In contrast, patients with severe deficiency require treatment with a diet very low in natural protein and supplements of a methionine-free cystine-enriched amino acid mixture. […] The drug, betaine, can also help to lower homocysteine concentrations. […] All complications can be prevented with pyridoxine (in responsive patients) or dietary treatment, if it is started early and there is good compliance. […] Currently, newborn screening programmes targeting at least one of the homocystinurias (most frequently CBS deficiency) are in place in several European countries such as the Czech Republic, Germany, Spain, the UK and Ireland; in several US states; in Qatar, Japan, Korea; and in Australia. […] 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.

• #57 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

  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. […] While this study is unique with regard to providing information from patients and caregivers, several limitations, mainly related to selection bias, need to be taken into account.

• #58 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

  HCU Network Australia is one of the very few support groups for patients with homocystinurias. […] 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. […] 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. […] CBS deficiency is treatable: pyridoxal 5-phosphate is a coenzyme for CBS and patients with milder forms of CBS deficiency usually respond to treatment (in terms of lowering tHcy to target levels or even close to the normal range) with pharmacological doses of its precursor pyridoxine.

• #59 Current and Novel Therapeutical Approaches of Classical Homocystinuria in Childhood With Special Focus on Enzyme Replacement Therapy, Liver-Directed Therapy and Gene Therapy

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9990725/

  Gene therapy could play an important role in the future to treat HCU in a curable aspect. […] Current treatment options for classical HCU are very limited and often inefficient, partially due to a low patient compliance with very strict dietary regimen, especially in children. […] New therapeutical approaches are initiated and are in study to deal with the immense accumulation of homocysteine and to develop a healthy metabolic balance.

• #60 Current and Novel Therapeutical Approaches of Classical Homocystinuria in Childhood With Special Focus on Enzyme Replacement Therapy, Liver-Directed Therapy and Gene Therapy | Bittmann | Journal of Clinical Medicine Research

  https://www.jocmr.org/index.php/JOCMR/article/view/4843/25893677

  Gene therapy could play an important role in the future to treat HCU in a curable aspect. But at all, gene therapeutical aspects are still in childhood shoes and should urgently further evaluated in detail. […] Current treatment options for classical HCU are very limited and often inefficient, partially due to a low patient compliance with very strict dietary regimen, especially in children. New therapeutical approaches are initiated and are in study to deal with the immense accumulation of homocysteine and to develop a healthy metabolic balance. […] Enzyme replacement therapies are based on a long-life substitution of a recombinant enzyme that takes the function of the disturbed cystathionine beta synthase in the pediatric patient.

Zobacz więcej