cystathionine beta-synthetase deficiency
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
- 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.
Last reviewed 01/2018