Abstract
Homocystinuria and homocystinemia without hypermthioninemia, but with reccurent episodes of folate responseive 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 reducte 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.
Publication types
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Research Support, U.S. Gov't, Non-P.H.S.
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adolescent
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Alcohol Oxidoreductases / deficiency*
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Diagnosis, Differential
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Female
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Folic Acid / blood
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Folic Acid / metabolism
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Folic Acid / therapeutic use*
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Homocysteine / metabolism
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Homocystine / blood
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Homocystine / urine
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Homocystinuria / diagnosis
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Homocystinuria / drug therapy
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Homocystinuria / enzymology*
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Humans
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Methionine / blood
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Methionine / metabolism
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Methylation
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Schizophrenia / diagnosis
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Schizophrenia / enzymology*
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Schizophrenia / etiology
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Tetrahydrofolates
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Vitamin B 12 / blood
Substances
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Tetrahydrofolates
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Homocysteine
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Homocystine
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Folic Acid
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Methionine
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Alcohol Oxidoreductases
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Vitamin B 12