Fatal lipid storage disorder.
A 12-week-old female infant died from acute encephalopathy mimicking Reye syndrome. Because of positive serum hepatitis B surface antigen (HBs Ag) and perivascular inflammatory cell infiltration in the liver, she was diagnosed as having acute hepatitis. The most striking finding in the present case was extremely excessive lipid accumulation in the striated muscles including biceps brachii, tongue and cardiac muscles. The levels of serum, liver and muscle carnitine were within normal limits, though liver carnitine palmityl transferase (CPT) was markedly decreased in activity. Although the primary metabolic defect has yet to be elucidated, it is assumed that the fulminant hepatic failure induced lipid accumulation in the skeletal muscle by a certain abnormal lipid metabolism.
D002334:Carnitine O-Palmitoyltransferase / Q000378:metabolism; D003951:Diagnostic Errors; D005260:Female; D006509:Hepatitis B / Q000175:diagnosis*; D006651:Histocytochemistry; D006801:Humans; D007223:Infant; D050356:Lipid Metabolism; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D008099:Liver / Q000201:enzymology; D009132:Muscles / Q000473:pathology
D002334:Carnitine O-Palmitoyltransferase