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Homocystinuria

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Homocystinuria is a rare autosomal recessive disorder of methionine metabolism.

Its estimated worldwide prevalence from newborn screening and clinical case finding is between 1 in 200 000 and 335 000 (1)

Untreated homocystinuria may be complicated by (2):

  • coronary artery disease
  • cerebrovascular disease
  • thromboembolism

References:

  1. Sellos-Moura M et al. Prevalence, characteristics, and costs of diagnosed homocystinuria, elevated homocysteine, and phenylketonuria in the United States: a retrospective claims-based comparison. BMC Health Serv Res 2020;20:183–96
  2. 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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