Neurology · 1981 · 50 citations · 0 references
Life SciencesNeurologyNeuroscienceNeurobiology Of DiseaseNeurochemistryNeuropathologyBrain Energy MetabolismEnzyme DeficienciesMetabolic DisordersMetabolic Pathway DefectsNeurogenetic DisordersNeuronal MetabolismAlpha-ketoglutarate Dehydrogenase ComplexMetabolic EncephalopathyPyruvate Dehydrogenase Complex DeficiencyPyruvate Dehydrogenase DeficiencyPyruvate Kinase DeficiencyPyruvate MetabolismPyruvate Metabolism DisordersPyruvate Oxidation
We studied a child with a rapidly progressive neurologic disorder, with psychomotor retardation, hypotonia, seizures, and respiratory disturbances. Laboratory studied showed elevated levels of lactate and pyruvate in cerebrospinal fluid (CSF), without notable elevated levels in serum. In liver, muscle, leukocytes, and cultured fibroblasts we found no abnormality in pyruvate oxidation; biochemical studies of a brain biopsy showed an isolated deficiency of pyruvate dehydrogenase complex in brain tissue with the morphologic picture of progressive poliodystrophy with hypomyelination.