An unusual case of carnitine palmitoyl transferase deficiency.
A 36-year-old man presented with episodic exertional dyspnea, fluctuating exercise intolerance, and myoglobinuria. He never experienced cramps or myalgias. Subsequent evaluation revealed carnitine palmitoyl transferase deficiency. The unusual features of this case suggested that carnitine palmitoyl transferase deficiency may have a more diverse clinical picture than previously described.
Galdi
A P
AP
Department of Neurology, Uniformed Services University of the Health Sciences, Bethesda, MD 20814-4799.
Clark
J B
JB
D000217:Acyltransferases / Q000172:deficiency*; D000328:Adult; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D004417:Dyspnea / Q000201:enzymology / Q000209:etiology; D006801:Humans; D008297:Male; D009212:Myoglobinuria / Q000201:enzymology; D005082:Physical Exertion
D000217:Acyltransferases; D002334:Carnitine O-Palmitoyltransferase