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: 855 relevant articles (17 outcomes, 65 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


1. Wyse, Angela T S: 22 articles (07/2014 - 04/2002)
2. Kraus, Jan P: 21 articles (09/2014 - 06/2002)
3. Kruger, Warren D: 13 articles (06/2014 - 03/2004)
4. Wajner, Moacir: 12 articles (04/2014 - 04/2002)
5. Blom, Henk J: 11 articles (08/2014 - 01/2005)
6. Janel, Nathalie: 10 articles (02/2015 - 08/2003)
7. Kozich, Viktor: 10 articles (07/2010 - 06/2002)
8. Krijt, Jakub: 9 articles (03/2015 - 08/2008)
9. Kožich, Viktor: 9 articles (03/2015 - 10/2010)
10. Delabar, Jean-Maurice: 9 articles (02/2015 - 05/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Homocystinuria:
1. Methionine (L-Methionine)FDA Link
2. HomocysteineIBA
3. Cystathionine beta-Synthase (Serine Sulfhydrase)IBA
4. Pyridoxine (Pyridoxin)FDA LinkGeneric
5. Betaine (C.B.B.)FDA Link
6. CystathionineIBA
7. Vitamin B 6IBA
8. Cysteine (L-Cysteine)FDA Link
9. Folic Acid (Vitamin M)FDA LinkGeneric
10. homocysteic acidIBA

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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for Homocystinuria,
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