title: Muscular carnitine palmitoyltransferase II deficiency in infancy.
abstract: An 8-month-old female presented with febrile myoglobinuria. The activity of carnitine palmitoyltransferase (CPT) II was decreased to 16% of the control mean, and the oxidation of the long-chain fatty acids was reduced to 25% of the mean in the fibroblasts. Homozygosity for the common mutation, S113L, was identified in the CPT II gene. Residual CPT II activity of more than 10% of the mean and homozygosity for the common mutation S113L are usually associated with a milder reduction of long-chain fatty acid oxidation to about 80% of the control and with a later age of clinical onset. The early clinical presentation in the present patient is unique and was associated with a marked impairment of long-chain fatty acid oxidation, possibly because of other genetic factors. CPT II deficiency should be included in the differential diagnosis of isolated myoglobinuria in infancy.
authors.affiliation: Department of Pediatrics, Bikur Cholim General Hospital, Hebrew University-Hadassah Medical School, Jerusalem, Israel.
authors.forename: H
authors.initials: H
authors.lastname: Hurvitz
authors.forename: A
authors.initials: A
authors.lastname: Klar
authors.forename: I
authors.initials: I
authors.lastname: Korn-Lubetzki
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: O N
authors.initials: ON
authors.lastname: Elpeleg
mesh_terms: D002334:Carnitine O-Palmitoyltransferase / Q000235:genetics* / Q000378:metabolism; D003402:Creatine Kinase / Q000097:blood; D003937:Diagnosis, Differential; D004573:Electrolytes / Q000008:administration & dosage; D005227:Fatty Acids / Q000097:blood* / Q000235:genetics; D005260:Female; D005334:Fever / Q000209:etiology; D005440:Fluid Therapy; D006720:Homozygote; D006801:Humans; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics*; D009212:Myoglobinuria / Q000201:enzymology / Q000209:etiology* / Q000235:genetics*; D010084:Oxidation-Reduction; D016896:Treatment Outcome
chemical_list: D004573:Electrolytes; D005227:Fatty Acids; D002334:Carnitine O-Palmitoyltransferase; D003402:Creatine Kinase