Leigh's Disease with Decreased Activities of Pyruvate Carboxylase and Pyruvate Decarboxylase

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 1980 Jan 1

PMID 6796755

Citations 1

Authors

J P Van Biervliet

M Duran

S K WADMAN

J F Koster

A VAN ROSSUM

Affiliations

Soon will be listed here.

Abstract

In a patient with the clinical symptoms of Leigh's disease a partial deficiency of hepatic pyruvate carboxylase and pyruvate decarboxylase was found at necropsy. Cerebral pyruvate decarboxylase activity was also diminished. All enzyme activities were measured in total homogenates. The finding of typical necrotic lesions in the brain stem was consistent with the clinical diagnosis. During life moderate lactic acidaemia and no hypoglycaemia were observed, but an abnormal organic acid excretion pattern was present. The contribution of the enzyme defects to the aetiology of the disease is discussed.

Citing Articles

Familial Leigh's syndrome: association with a defect in oxidative metabolism probably restricted to brain.

van Erven P, Gabreels F, Ruitenbeek W, Renier W, Lamers K, Sloof J J Neurol. 1987; 234(4):215-9.

PMID: 3612192 DOI: 10.1007/BF00618253.

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