Muscular carnitine palmitoyltransferase II deficiency in infancy.
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.
Hurvitz
H
H
Department of Pediatrics, Bikur Cholim General Hospital, Hebrew University-Hadassah Medical School, Jerusalem, Israel.
Klar
A
A
Korn-Lubetzki
I
I
Wanders
R J
RJ
Elpeleg
O N
ON
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
D004573:Electrolytes; D005227:Fatty Acids; D002334:Carnitine O-Palmitoyltransferase; D003402:Creatine Kinase