[Abnormal regulation of carnitine palmitoyltransferase in monozygotic twins as the cause of rhabdomyolysis].
Severe myalgias, accompanied by reddish brown discolouration of the urine, occurred after strenuous exercise (all-day hockey competition) in a 21-year-old competitive athlete. Creatine kinase concentration was 1914 U/l, but there were no abnormal physical findings. The myalgias disappeared within three days. A biopsy from the lateral vastus muscle in the patient and his monozygotic twin brother showed normal total activity of carnitine palmitoyltransferase (CPT), but residual activity after inhibition with malonyl-CoA and Triton X-100 was clearly reduced in both brothers. Thus the illness was a rhabdomyolysis due to a, presumably inherited, abnormal regulation of CPT. The symptoms can be precipitated by fasting, marked physical exertion, cold or viral infection.
Schröder
J P
JP
Abteilung Innere Medizin, Universität Bonn.
Mau
W
W
Schumacher
S
S
Zierz
S
S
D000217:Acyltransferases / Q000172:deficiency*; D000328:Adult; D002334:Carnitine O-Palmitoyltransferase / Q000032:analysis / Q000172:deficiency*; D004200:Diseases in Twins / Q000175:diagnosis*; D006688:Hockey; D006801:Humans; D008297:Male; D009132:Muscles / Q000201:enzymology; D010146:Pain / Q000175:diagnosis / Q000201:enzymology / Q000209:etiology; D012206:Rhabdomyolysis / Q000175:diagnosis / Q000201:enzymology* / Q000209:etiology; D014427:Twins; D014430:Twins, Monozygotic
D000217:Acyltransferases; D002334:Carnitine O-Palmitoyltransferase
Abnorme Regulation der Carnitin-Palmitoyltransferase bei eineiigen Zwillingen als Ursache einer Rhabdomyolyse.