Lipid storage myopathy in infantile Pompe's disease.
An infant died at 8 months of age with a history of developmental regression, hypotonia, severe weakness, cardiomegaly, congestive heart failure, and hepatomegaly. A diagnosis of Pompe's disease (glycogenosis type II) was established by muscle biopsy at 5 months of age. Vacuolar myopathy involved muscle fibers of histochemical type I more than type II. Many vacuoles were filled with glycogen. In addition, increased amounts of neutral lipid were demonstrated by oil red O stain, electron microscopy, and quantitative analysis. Acid alpha-1,4-glucosidase activity was demonstrated to be deficient. Biochemical studies failed to determine the cause of the lipid accumulation, but demonstrated a low total concentration of carnitine in the muscle (6.37 nmole/mg of protein), associated with elevated activities of carnitine palmityl-transferase and palmityl-coenzyme A dehydrogenase. Palmityl-coenzyme A synthetase activity was in the normal range.
D002334:Carnitine O-Palmitoyltransferase / Q000378:metabolism; D003066:Coenzyme A Ligases / Q000378:metabolism; D005260:Female; D006003:Glycogen / Q000378:metabolism; D006008:Glycogen Storage Disease / Q000473:pathology*; D006009:Glycogen Storage Disease Type II / Q000201:enzymology / Q000473:pathology*; D006801:Humans; D007223:Infant; D050356:Lipid Metabolism; D008052:Lipid Metabolism, Inborn Errors / Q000201:enzymology / Q000473:pathology*; D008854:Microscopy, Electron; D009123:Muscle Hypotonia / Q000201:enzymology / Q000473:pathology*; D009132:Muscles / Q000201:enzymology / Q000473:pathology; D010169:Palmitic Acids / Q000378:metabolism; D012097:Repressor Proteins; D029701:Saccharomyces cerevisiae Proteins; D014617:Vacuoles / Q000648:ultrastructure; D000098859:Long-Chain-Fatty-Acid-CoA Ligase
D010169:Palmitic Acids; D012097:Repressor Proteins; D029701:Saccharomyces cerevisiae Proteins; D006003:Glycogen; D002334:Carnitine O-Palmitoyltransferase; D003066:Coenzyme A Ligases; C090799:FAA2 protein, S cerevisiae; D000098859:Long-Chain-Fatty-Acid-CoA Ligase