Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debré syndrome and a disturbed succinate: cytochrome c oxidoreductase activity

• Published in: European journal of pediatrics Vol. 147; no. 4; pp. 418 - 421
• Main Authors: SPERL, W, RUITENBEEK, W, TRIJBELS, J. M. F, SENGERS, R. C. A, STADHOUDERS, A. M, GUGGENBICHLER, J. P
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01-05-1988; Berlin
• Subjects: Acidosis, Lactic - metabolism; Biological and medical sciences; Carnitine - metabolism; Diseases of striated muscles. Neuromuscular diseases; Fanconi Syndrome - enzymology; Fanconi Syndrome - metabolism; Female; Humans; Infant, Newborn; Lactates - blood; Lactates - urine; Lactic Acid; Medical sciences; Mitochondria, Muscle - enzymology; Mitochondria, Muscle - metabolism; Muscular Diseases - enzymology; Muscular Diseases - metabolism; Neurology; Oxidoreductases - metabolism; Pyruvates - blood; Succinate Cytochrome c Oxidoreductase - metabolism; Ubiquinone - metabolism; Human; Nervous system diseases; Biochemical analysis; Urinary system disease; Fanconi anemia; Congenital; Enzyme; Tubulopathy; Infant; Hemopathy; Striated muscle; Pathology; Concomitant disease; Mitochondrial myopathy; Myopathy
• DOI: 10.1007/BF00496424
• EISSN: 1432-1076
• ISSN: 0340-6199

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.