Myopathy in an infant with a fatal peroxisomal disorder.
An infant with neonatal adrenoleukodystrophy experienced extreme hypotonia and virtually continuous convulsions at four months of age and died. Light and electron microscopic examination revealed evidence of myopathy and the presence of mitochondrial inclusions. Concentrations of very long-chain fatty acids were elevated in blood and fibroblasts and the oxidation of 14C-labeled fatty acids was defective. Urinary pipecolic acid content was increased. Activity of the peroxisomal dihydroxyacetone phosphate acyltransferase, which catalyzes the first step in plasmalogen synthesis, was decreased.
D000217:Acyltransferases / Q000172:deficiency*; D000326:Adrenoleukodystrophy / Q000473:pathology*; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D008830:Microbodies / Q000648:ultrastructure*; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle / Q000648:ultrastructure*; D009123:Muscle Hypotonia / Q000473:pathology*
D000217:Acyltransferases; C020051:glycerone-phosphate O-acyltransferase