Folate-Responsive Homocystinuria and “Schizophrenia”

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Abstract
Homocystinuria and homocystinemia without hypermethioninemia, but with recurrent episodes of folate responsive schizophrenic-like behavior, was documented in a mildly retarded adolescent girl who lacked the habitus associated with cystathionine synthase deficiency. Enzymes involved in homocysteine-methionine metabolism were demonstrated to be normal. A defect in the ability to reduce N-5–10-methylenetetrahydrofolate to 5-methyltetrahydrofolate was demonstrated. Methylenetetrahydrofolate reductase was 18 per cent of control values. Methyltetrahydrofolate is used for the methylation of homocysteine to methionine, and a deficiency of this compound could explain the homocystinemia and homocystinuria. (N Engl J Med 292: 491–496, 1975)