Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscles.
A patient suffering froma mitochondrial myopathy leading to severe insufficiency of the voluntary muscles is described. Severe cerebral damage was present. Major biochemical symptoms were extreme lactic acidemia, hypophosphatemia and hyperphosphaturia, and generalized aminoaciduria, renal glucosuria, and polyuria. Muscular insufficiency resulted in lethal asphyxiz. All therapeutic trials were insufficient. The patient and two other children of the same family with a similar clinical picture all died before the 4th month of life. The condition is probably inherited in an autosomal recessive way. A defective respiratory chain in the mitochondria of the striated muscles is proposed as the underlying mechanism. Cytochromes aa3 were absent, b was nearly absent, but cc1 was present. In heart muscle cytochromes aa3 and b were at the level of the controls.
D003580:Cytochromes / Q000172:deficiency; D004579:Electron Transport; D005198:Fanconi Syndrome / Q000150:complications* / Q000378:metabolism; D006801:Humans; D007223:Infant; D007773:Lactates / Q000097:blood*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000378:metabolism; D008931:Mitochondria, Muscle / Q000378:metabolism* / Q000648:ultrastructure; D009132:Muscles / Q000378:metabolism* / Q000648:ultrastructure; D009135:Muscular Diseases / Q000150:complications / Q000235:genetics* / Q000378:metabolism
D003580:Cytochromes; D007773:Lactates