Sperl W, Ruitenbeek W, Trijbels J M, Sengers R C, Stadhouders A M, Guggenbichler J P
Childrens' Hospital, University of Innsbruck, Austria.
Eur J Pediatr. 1988 May;147(4):418-21. doi: 10.1007/BF00496424.
A patient with severe muscular hypotonia, failure to thrive, a metabolic acidosis and a renal tubular dysfunction is presented. The disease followed a fatal course. Blood lactate and pyruvate levels as well as lactate/pyruvate ratios were strongly elevated. There were a massive excretion of lactate in urine, a generalized hyperaminoaciduria, a proteinuria and a mellituria. The carnitine concentration was diminished in blood and muscle tissue. Biochemical investigations of skeletal muscle and liver tissue revealed a defect in the respiratory chain at the level of succinate: cytochrome c oxidoreductase. The defect could not be demonstrated in cultured fibroblasts.
