title: Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation.
abstract: We report a patient with severe infantile carnitine palmitoyltransferase II (CPT II) deficiency who died at the age of 3 months. Genetic analysis of the CPT2 gene revealed that the patient was homozygous, and her parents were heterozygous, for a R503C missense mutation. Heterozygosity for R503C, without a second mutation, has previously been reported in symptomatic patients from two families, one with the mild adult myopathic form and one with malignant hyperthermia. In contrast, the R503C heterozygous parents of the patient were entirely asymptomatic, suggesting that additional genetic and/or environmental factors must have contributed to the occurrence of symptoms in previously reported carriers. Our findings indicate that the mutation R503C should be added to the handful of mutations associated with the severe phenotype when present in the homozygous state or combined with another severe mutation.
authors: Genetic Institute, Ha'Emek Medical Center, Afula, Rappaport School of Medicine, Technion, Haifa, Israel. spiegelr@zahav.net.il
authors: R
authors: R
authors: Spiegel
authors: A
authors: A
authors: Shaag
authors: A
authors: A
authors: Gutman
authors: S H
authors: SH
authors: Korman
authors: A
authors: A
authors: Saada
authors: O
authors: O
authors: Elpeleg
authors: S A
authors: SA
authors: Shalev
mesh_terms: D001120:Arginine; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency* / Q000235:genetics*; D003545:Cysteine; D005091:Exons; D017809:Fatal Outcome; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000235:genetics / Q000503:physiopathology*; D008928:Mitochondria / Q000378:metabolism; D020125:Mutation, Missense; D010084:Oxidation-Reduction; D012720:Severity of Illness Index
chemical_list: D005227:Fatty Acids; D001120:Arginine; D002334:Carnitine O-Palmitoyltransferase; D003545:Cysteine