Homocystinuria

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.