Muscle carnitine palmityltransferase deficiency: a case with enzyme deficiency in cultured fibroblasts.
A further case of carnitine palmityltransferase (CPT) deficiency in a young man is described, the defect being documented by direct enzyme assays of muscle biopsies. The finding of markedly reduced enzyme activity in the patient's cultured fibroblasts supports the concept that CPT deficiency is a systemic rather than an exclusively muscular condition.
D000217:Acyltransferases / Q000172:deficiency*; D000328:Adult; D002331:Carnitine / Q000097:blood; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency* / Q000378:metabolism; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000201:enzymology; D009132:Muscles / Q000201:enzymology*; D012867:Skin / Q000201:enzymology*
D000217:Acyltransferases; D002334:Carnitine O-Palmitoyltransferase; D002331:Carnitine