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Homocystinuria

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Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)
Also Known As:
Deficiency Disease, Cystathionine beta-Synthase; CBS Deficiencies; Cystathionine beta Synthase Deficiency Disease; Deficiencies, CBS; Deficiency Disease, Cystathionine beta Synthase; Deficiency, CBS; CBS Deficiency; Cystathionine beta-Synthase Deficiency Disease
Networked: 771 relevant articles (14 outcomes, 54 trials/studies) for this Disease, Comments

Relationship Network

Disease Context: Research Results

Related Diseases

1. Homocystinuria
2. Thromboembolism
3. Tyrosinemias (Tyrosinemia)
4. Galactosemias (Galactosemia)
5. Anemia

Experts

1. Kraus, Jan P: 11 articles (06/2012 - 06/2002)
2. Wyse, Angela T S: 10 articles (08/2012 - 04/2002)
3. Blom, Henk J: 7 articles (12/2012 - 01/2005)
4. Stabler, Sally P: 6 articles (09/2012 - 06/2002)
5. Allen, Robert H: 6 articles (09/2012 - 06/2002)
6. Wajner, Moacir: 6 articles (09/2011 - 04/2002)
7. Kruger, Warren D: 6 articles (01/2011 - 03/2004)
8. Rosenblatt, David S: 6 articles (12/2009 - 07/2002)
9. Janel, Nathalie: 6 articles (06/2009 - 08/2003)
10. Maclean, Kenneth N: 5 articles (09/2012 - 06/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Homocystinuria:
1. HomocysteineIBA
2. Methionine (L-Methionine)FDA Link
3. Cystathionine beta-Synthase (Serine Sulfhydrase)IBA
4. Pyridoxine (Pyridoxin)FDA LinkGeneric
5. Betaine (C.B.B.)FDA Link
6. Vitamin B 6IBA
7. CystathionineIBA
8. Folic Acid (Vitamin M)FDA LinkGeneric
9. homocysteic acidIBA
10. Coenzyme A (CoA)IBA
05/01/2008 - "Were obtained seven positive results, one for each disorder: homocystinuria, hyperphenylalaninemia, citrulinemia, transient tyrosinemia, 3-methylcrotonyl CoA carboxylase deficiency, 3-hydroxy-3-methylglutaryl CoA deficiency, and classic galactosemia. "
10/01/2010 - "In Taiwan, during the period March 2000 to June 2009, 1,495,132 neonates were screened for phenylketonuria (PKU) and homocystinuria (HCU), and 1,321,123 neonates were screened for maple syrup urine disease (MSUD), methylmalonic academia (MMA), medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) deficiency, isovaleric academia (IVA), and glutaric aciduria type 1 (GA-1) using tandem mass spectrometry (MS/MS). "
12/17/2005 - "Because screening may lead to considerably better outcomes in affected newborns, the council recommends expanding current screening to include medium-chain acyl-CoA dehydrogenase deficiency, sickle-cell disease and 12 other rare disorders: biotinidase deficiency, galactosaemia, glutaricaciduria type I, HMG-CoA lyase deficiency, holocarboxylase-synthetase deficiency, homocystinuria, isovaleric-acidaemia, long-chain hydroxyacyl-CoA dehydrogenase deficiency, maple syrup urine disease, 3-methylcrotonyl-CoA carboxylase deficiency, tyrosinaemia I and very-long-chain acyl-CoA dehydrogenase deficiency. "
08/05/2008 - "319 of the 4981 children (6.4%) were diagnosed as with 24 kinds of diseases: 155 of the 319 cases (48.6%) with 8 kinds of amino acid diseases (97 with hyperphenylalaninemia, 14 with maple syrup urine disease 13 with ornithine transcarbamylase deficiency, 13 with citrullinemia type II, 10 with tyrosinemia type I, 5 with citrullinemia type I, 2 with homocystinuria, and 1 with arginasemia); 150 of the 319 cases (47.0%) were diagnosed as with 10 kinds of organic acidemias (81 with methylmalonic acidemia, 17 with propionic acidemia, 17 with multiple CoA carboxylase deficiency, 11 with glutaric acidemia type II, 8 with isovaleric acidemia, 6 with beta-keto thiolase deficiency, 5 with 3-methylcrotonyl-CoA carboxylase deficiency, and 3 with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency); 14 cases (4.4%) were diagnosed as with 6 kinds of fatty acid disorders (5 with medium chain acyl-CoA dehydrogenase deficiency, 3 with very long chain acyl CoA dehydrogenase deficiency, 2 with short chain acyl-CoA dehydrogenase deficiency, 2 with multiple acyl-CoA dehydrogenase deficiency, 1 with carnitine palmitoyl transferase type II, and 1 with carnitine palmitoyl transferase type I). "
08/01/2007 - "In all, 212 cases were diagnosed (6.6%) including 92 (43.4%) with amino acids disorders (48 with phenylketonuria, 12 with ornithine carbamoyltransferase deficiency, 7 with tyrosinaemia type I, 9 with maple syrup urine disease, 5 with citrullinaemia type I, 8 with citrullinaemia type II, 2 with homocystinuria, and 1 with argininaemia); 107 (50.5%) with organic acid disorders (including 58 with methylmalonic acidaemia, 13 with propionic acidaemia, 6 with isovaleric acidaemia, 7 with glutaric acidaemia type I, 6 with 3-methylcrotonyl-CoA carboxylase deficiency, 2 with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, 10 with multiple carboxylase deficiency, and 5 with beta-ketothiolase deficiency); and 13 (6.1%) with fatty acid oxidation disorders (including 1 with carnitine palmitoyltransferase deficiency type I, 1 with carnitine palmitoyltransferase deficiency type II, 1 with short-chain acyl-CoA dehydrogenase deficiency, 5 with medium-chain acyl-CoA dehydrogenase deficiency, 3 with very long-chain acyl-CoA dehydrogenase deficiency, and 2 with multiple acyl-CoA dehydrogenase deficiency). "
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Therapies and Procedures

1. Protein-Restricted Diet (Diet, Protein Restricted)
2. Lenses
3. General Anesthesia
4. Drug Therapy (Chemotherapy)
5. Diet Therapy (Therapy, Diet)

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