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: W Sperl, W Ruitenbeek, J M Trijbels, R C Sengers, A M Stadhouders, J P Guggenbichler
• Journal: European journal of pediatrics (Eur J Pediatr) Vol. 147 Issue 4 Pg. 418-21 (May 1988) ISSN: 0340-6199 [Print] Germany
• PMID: 2840289 (Publication Type: Case Reports, Journal Article)

Chemical References

• Lactates
• Pyruvates
• Ubiquinone
• Lactic Acid
• Oxidoreductases
• Succinate Cytochrome c Oxidoreductase
• Carnitine

Topics

• Acidosis, Lactic (metabolism)
• Carnitine (metabolism)
• Fanconi Syndrome (enzymology, metabolism)
• Female
• Humans
• Infant, Newborn
• Lactates (blood, urine)
• Lactic Acid
• Mitochondria, Muscle (enzymology, metabolism)
• Muscular Diseases (enzymology, metabolism)
• Oxidoreductases (metabolism)
• Pyruvates (blood)
• Succinate Cytochrome c Oxidoreductase (metabolism)
• Ubiquinone (metabolism)