title: Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debré syndrome and a disturbed succinate: cytochrome c oxidoreductase activity.
abstract: 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.
authors.affiliation: Childrens' Hospital, University of Innsbruck, Austria.
authors.forename: W
authors.initials: W
authors.lastname: Sperl
authors.forename: W
authors.initials: W
authors.lastname: Ruitenbeek
authors.forename: J M
authors.initials: JM
authors.lastname: Trijbels
authors.forename: R C
authors.initials: RC
authors.lastname: Sengers
authors.forename: A M
authors.initials: AM
authors.lastname: Stadhouders
authors.forename: J P
authors.initials: JP
authors.lastname: Guggenbichler
mesh_terms: D000140:Acidosis, Lactic / Q000378:metabolism; D002331:Carnitine / Q000378:metabolism; D005198:Fanconi Syndrome / Q000201:enzymology / Q000378:metabolism*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007773:Lactates / Q000097:blood* / Q000652:urine; D019344:Lactic Acid; D008931:Mitochondria, Muscle / Q000201:enzymology / Q000378:metabolism*; D009135:Muscular Diseases / Q000201:enzymology / Q000378:metabolism*; D010088:Oxidoreductases / Q000378:metabolism*; D011773:Pyruvates / Q000097:blood; D013384:Succinate Cytochrome c Oxidoreductase / Q000378:metabolism*; D014451:Ubiquinone / Q000378:metabolism
chemical_list: D007773:Lactates; D011773:Pyruvates; D014451:Ubiquinone; D019344:Lactic Acid; D010088:Oxidoreductases; D013384:Succinate Cytochrome c Oxidoreductase; D002331:Carnitine