[Lipid metabolism disorder in skeletal musculature (carnitine palmitoyltransferase deficiency) and paroxysmal myoglobinuria].
For the first time in Soviet medical literature a patient with an insufficiency of carnitine palmityl transferase (CPT) in skeletal muscles is described. The disease manifested itself in repeated attacks of severe muscular pains and myoglobinuria developing after long-time muscular efforts. The patient showed a persistent rise of the serum levels of free fatty acids, beta-lipoproteids and triglycerides, as well as a rise of the triglyceride level in the course of a 3-day fasting, the fact rather characteristic of muscular CPT insufficiency. The presence of myoglobin in the serum and the urine was confirmed by electrophoresis on paper and cellulose acetate. The pathogenesis of the disease, and problems of its differential diagnosis and treatment are discussed.
D000217:Acyltransferases / Q000172:deficiency*; D000328:Adult; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D003937:Diagnosis, Differential; D005230:Fatty Acids, Nonesterified / Q000097:blood; D006008:Glycogen Storage Disease / Q000175:diagnosis; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis*; D008077:Lipoproteins, LDL / Q000097:blood; D008297:Male; D009132:Muscles / Q000201:enzymology*; D009212:Myoglobinuria / Q000175:diagnosis*; D013577:Syndrome; D014280:Triglycerides / Q000097:blood
D005230:Fatty Acids, Nonesterified; D008077:Lipoproteins, LDL; D014280:Triglycerides; D000217:Acyltransferases; D002334:Carnitine O-Palmitoyltransferase
Narushenie lipidnogo obmena v skeletnoĭ muskulature (nedostatochnost' karnitinpal'mitiltransferazy) i paroksizmal'naia mioglobinuriia.