Fatal lipid storage myopathy in an infant: case report and autopsy findings.
The clinical presentation, muscle biopsy appearances and autopsy findings in a male infant dying at the age of 13 weeks with a lipid storage myopathy are described. The primary metabolic abnormality was not elucidated but was thought not to be carnitine deficiency.
D001706:Biopsy; D002331:Carnitine / Q000378:metabolism; D006801:Humans; D007223:Infant; D050356:Lipid Metabolism; D008052:Lipid Metabolism, Inborn Errors / Q000201:enzymology / Q000473:pathology*; D008297:Male; D009123:Muscle Hypotonia / Q000201:enzymology / Q000473:pathology*; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000473:pathology; D012131:Respiratory Insufficiency / Q000473:pathology; D013385:Succinate Dehydrogenase / Q000378:metabolism
D013385:Succinate Dehydrogenase; D002331:Carnitine