vi medicine informatics




Homocystinuria> tall marfanoid habitus, downward and inward lens subluxation, acute MI at a young age. Intellectual disability is also a common finding. Cystathionine synthase deficiency. Cystathionine synthase converts homocysteine to cystathionine and uses vitamin B6 as a cofactor. Vitamin B6 is converted to pyridoxal phosphate, which is a cofactor used in various reactions, such as transamination, decarboxylation reactions, and glycogen phosphorylase. Treatment for cystathionine synthase deficiency is restriction of methionine and an increase in cysteine, vitamins B6 and B12, and folate in the diet.

tags: oneliner