Carnitine palmitoyltransferase deficiency in a college athlete: a case report and literature review.
Type II carnitine palmitoyltransferase deficiency is the most common cause of exercise-induced rhabdomyolysis, myoglobinuria, and proximal muscle weakness and pain in young adults. A lack of this enzyme impairs mitochondrial oxidation of long-chain fatty acids and can lead to rhabdomyolysis, myoglobinuria, and renal failure. Carnitine palmitoyltransferase deficiency, unusual but not rare, is often detected by finding elevated creatine phosphokinase level in a routine blood chemistry panel. A case of carnitine palmitoyltransferase deficiency in a college athlete is presented, and the disorder is compared with defective myophosphorylation in McArdle's disease, the next most frequent cause of similar symptoms.
Faigel
H C
HC
University Health Services, Brandeis University, USA.
D058186:Acute Kidney Injury / Q000150:complications*; D000293:Adolescent; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D003937:Diagnosis, Differential; D015444:Exercise; D005260:Female; D006012:Glycogen Storage Disease Type V / Q000150:complications / Q000201:enzymology / Q000235:genetics; D006801:Humans; D017240:Mitochondrial Myopathies / Q000150:complications / Q000201:enzymology / Q000235:genetics; D009212:Myoglobinuria / Q000150:complications*; D010766:Phosphorylation; D012206:Rhabdomyolysis / Q000150:complications*
D002334:Carnitine O-Palmitoyltransferase