A case of lipid storage myopathy with carnitine deficiency. Biochemical and electromyographic correlations.
Histochemical, biochemical and electromyographic studies were performed in a case of carnitine deficiency in serum and in muscle. Clinical features include proximal muscle weakness, predominant type I fiber impairment, excess of triglycerides and moderate glycogen accumulation in muscle. No abnormalities of palmityl CoA synthetase, carnitine palmityl transferase, carnitine acetyl transferase and lipase were evidenced. An interesting EMG decremental pattern was recorded. Correlations between electromyographic and biochemical findings are considered. A clinical improvement, a normal plasma carnitine level and a normal response at EMG repetitive stimulation were found after carnitine treatment.
D000328:Adult; D002331:Carnitine / Q000172:deficiency* / Q000627:therapeutic use; D002332:Carnitine O-Acetyltransferase / Q000378:metabolism; D002334:Carnitine O-Palmitoyltransferase / Q000378:metabolism; D002784:Cholesterol / Q000378:metabolism; D004576:Electromyography; D006003:Glycogen / Q000378:metabolism; D006801:Humans; D008049:Lipase / Q000378:metabolism; D050356:Lipid Metabolism; D008297:Male; D009135:Muscular Diseases / Q000201:enzymology / Q000378:metabolism* / Q000473:pathology; D010171:Palmitoyl Coenzyme A / Q000378:metabolism; D010743:Phospholipids / Q000378:metabolism; D014280:Triglycerides / Q000378:metabolism
D010743:Phospholipids; D014280:Triglycerides; D010171:Palmitoyl Coenzyme A; D006003:Glycogen; D002784:Cholesterol; D002334:Carnitine O-Palmitoyltransferase; D002332:Carnitine O-Acetyltransferase; D008049:Lipase; D002331:Carnitine