September 01, 2005
Homocystinuria, an autosomal recessive disorder, is the second most treatable aminoacidopathy.1 Left untreated, it increases risk for cardiovascular disease (CVD), deep vein thrombosis (DVT), and stroke. Additionally, homocystinuria increases the risk for failure to thrive, mental retardation, seizure disorders, osteoporosis, ectopia lentis, fatty liver disease, and genu valgum.