title: [Abnormal regulation of carnitine palmitoyltransferase in monozygotic twins as the cause of rhabdomyolysis].
abstract: 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.
authors.affiliation: Abteilung Innere Medizin, Universität Bonn.
authors.forename: J P
authors.initials: JP
authors.lastname: Schröder
authors.forename: W
authors.initials: W
authors.lastname: Mau
authors.forename: S
authors.initials: S
authors.lastname: Schumacher
authors.forename: S
authors.initials: S
authors.lastname: Zierz
mesh_terms: 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
chemical_list: D000217:Acyltransferases; D002334:Carnitine O-Palmitoyltransferase
vernacular_title: Abnorme Regulation der Carnitin-Palmitoyltransferase bei eineiigen Zwillingen als Ursache einer Rhabdomyolyse.