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Homocystinuria

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:
Cystathionine Beta Synthase Deficiency; 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: 1117 relevant articles (32 outcomes, 78 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Phenylketonurias (Phenylketonuria)
2. Galactosemias (Galactosemia)
3. Methylmalonic acidemia
4. Maple Syrup Urine Disease
5. Thromboembolism

Experts

1. Kraus, Jan P: 33 articles (11/2019 - 06/2002)
2. Kruger, Warren D: 26 articles (07/2022 - 03/2004)
3. Blom, Henk J: 25 articles (01/2022 - 01/2005)
4. Wyse, Angela T S: 23 articles (08/2015 - 04/2002)
5. Kožich, Viktor: 22 articles (01/2022 - 10/2010)
6. Majtan, Tomas: 21 articles (09/2020 - 05/2010)
7. Stabler, Sally P: 18 articles (01/2021 - 02/2002)
8. Gupta, Sapna: 17 articles (01/2021 - 08/2008)
9. Janel, Nathalie: 16 articles (01/2022 - 08/2003)
10. Krijt, Jakub: 15 articles (01/2021 - 08/2008)

Drugs and Biologics

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

Therapies and Procedures

1. Therapeutics
2. Enzyme Replacement Therapy
3. Liver Transplantation
4. Protein-Restricted Diet (Diet, Protein Restricted)
5. Lenses