POSSIBLE MECHANISMS FOR DIETARY MOLYBDENUM TOXICITY IN THE RAT.
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Cystathionine was absent in the cerebrum of a patient with homocystinuria. This supports the theory that the enzymatic defect in homocystinuria is deficiency of cystathionine synthetase.
Deficiency of cystathioninie synthetase activity results in the clinical syndrome of homocystinuria. In both parents of a patient with homocystinuria, the hepatic cystathionine synthetase activity was 40 percent of that in unrelated control patients. These findings demonstrate that the metabolic error is inherited and suggest that the parents, although clinically normal, represent the heterozygous. state. A second case of homocystinuria also is shown to be associated with cystathionine synthetase deficiency.
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