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Homocystinuria Summary

Description: 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 Show All >>

Networked: 881 relevant articles (17 outcomes, 66 trials/studies) for this Disease

Key Drugs and Agents for Homocystinuria

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Methionine (L-Methionine) : 5 outcomes 14 studies in 118 results : FDA 30
  2. Homocysteine : 3 outcomes 19 studies in 221 results : IBA
  3. Cystathionine beta-Synthase (Serine Sulfhydrase) : 3 outcomes 11 studies in 232 results : IBA
  4. Pyridoxine (Pyridoxin) : 3 outcomes 8 studies in 99 results : FDA 27 Generic
  5. Betaine (C.B.B.) : 3 outcomes 3 studies in 46 results : FDA 1
  6. Cystathionine : 2 outcomes 5 studies in 102 results : IBA
  7. Vitamin B 6 : 2 outcomes in 18 results : IBA
  8. Cysteine (L-Cysteine) : 1 outcome 4 studies in 25 results : FDA 10
  9. Folic Acid (Vitamin M) : 1 outcome 2 studies in 48 results : FDA 50 Generic
  10. homocysteic acid : 1 outcome 1 study in 3 results : IBA
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Diseases Related to Homocystinuria

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

Efficacy Chart >>
  1. Protein-Restricted Diet (Diet, Protein Restricted) : 1 study in 2 results
  2. Lenses : 10 results
  3. General Anesthesia : 5 results
  4. Drug Therapy (Chemotherapy) : 2 results
  5. Diet Therapy (Therapy, Diet) : 2 results
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