PT  - JOURNAL ARTICLE
AU  - R. A. PIETER KARK
AU  - JOHN P. BLASS
AU  - W. KING ENGEL
TI  - Pyruvate oxidation in neuromuscular diseases
AID  - 10.1212/WNL.24.10.964
DP  - 1974 Oct 01
TA  - Neurology
PG  - 964--964
VI  - 24
IP  - 10
4099  - http://n.neurology.org/content/24/10/964.short
4100  - http://n.neurology.org/content/24/10/964.full
SO  - Neurology1974 Oct 01; 24
AB  - To seek clues of metabolic derangements in neurornuscular diseases, the oxidations of pyruvate and succinate were studied in biopsied muscle. Pyruvate oxidation in 7 of 19 spinocerebellar degenerations (0.327± 0.040 prnoles × gm-1 noncollagenous protein content × hr-l) and 8 of 19 motor neuropathies (0.367± 0.029) was less than in controls with myopathic disease (1.096±0.91) or normal muscle (1.707± 0.181) (means± S.E.M.). The rates were independent of several physiologic variables, of the ratios of Type I::Type ll fibers in the specimens, and of the degree of neuropathy. Succinate was oxidized normally. Serially cultured fibroblasts from three patients from families with Friedreich's ataxia also oxidized pyruvate more slowly than did controls (0.11± 0.03 vs. 0.30± 0.02 cpm × mcg-1' protein × hr-1. These two families with ataxia appear to have a genetic defect that affects pyruvate oxidation in some unknown way.