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Defects in citric acid cycle and the electron transport chain in progressive poliodystrophy
Author(s) -
Gabreëls F. J. M.,
Prick M. J. J.,
Trijbels J. M. F.,
Renier W. O.,
Jaspar H. H. J.,
Janssen A. J. M.,
Slooff J. L.
Publication year - 1984
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.1984.tb00813.x
Subject(s) - citric acid cycle , pyruvate dehydrogenase complex , pyruvate carboxylase , mitochondrion , mitochondrial myopathy , citrate synthase , biology , endocrinology , leigh disease , biochemistry , medicine , pathology , chemistry , metabolism , enzyme , mitochondrial dna , gene
– We will present 8 children with progressive infantile or juvenile poliodystrophy (Alpers' disease), associated with a defect in pyruvate metabolism. Laboratory studies showed elevated levels of lactate in CSF and, in 4 children, elevated levels in serum. Histopathologic studies revealed lipid storage in liver and/or muscle tissue, sometimes myopathy with abnormal mitochondria and slight axonal degeneration in the peripheral nerve. Autopsy showed the characteristics of progressive poliodystrophy with degeneration and loss of neurons. Electron microscopy of cerebral cortex showed no mitochondrial abnormalities in neurons or astroglia. Biochemical studies in muscle and/or liver and/or cerebral tissue showed different deficiencies in pyruvate metabolism: in the pyruvate dehydrogenase complex, in the second part of the citric acid cycle (after the oxoglutarate dehydrogenase complex), in the NADH oxidation, in cytochrome aa 3 and in pyruvate carboxylase.