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Cystathionine beta-synthetase deficiency

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Homocystinuria is a rare autosomal recessive disorder of methionine metabolism.

There is a worldwide distribution with an incidence of 1 per 52000 live births (1)

Untreated homocystinuria may be complicated by (2):

  • coronary artery disease
  • cerebrovascular disease
  • thromboembolism


  • Stanbury JB et al (1983). The Metabolic Basis of Inherited Disease, 5th edn. McGraw-Hill.
  • Boushey, CJ. et al. (1995). A quantitative assessment of plasma homocysteine as a risk factor for vascular disease. Probable benefits of increasing folic acid intakes. JAMA, 274, 1049-57.

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