Article

‘Reye's syndrome due to a novel protein-tolerant variant of ornithine-transcarbamylase deficiency.’

The Lancet (Impact Factor: 45.22). 09/1974; 2(7878):438-40. DOI: 10.1016/S0140-6736(74)91819-4
Source: PubMed

ABSTRACT

A novel variant of ornithine-trans-carbamylase (O.T.C.) deficiency has been discovered in a patient with encephalopathy and fatty visceral degeneration (Reye's syndrome). Hepatic ornithine transcarbamylase activity was 20·7% of normal, with extremely low affinity of the enzyme for ornithine, and substrate inhibition by carbamyl phosphate and ornithine. The findings reveal a link between Reye's syndrome and heritable O.T.C. deficiency, and suggest that administration of ornithine or arginine may be specific therapy for this condition.

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