CPT2 mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency

Department of Pediatrics, School of Medicine & Biomedical Sciences, State University of New York at Buffalo, SUNY at Buffalo, 100 High Street, Buffalo, NY 14203, USA.
Molecular Genetics and Metabolism (Impact Factor: 2.63). 09/2008; 94(4):422-7. DOI: 10.1016/j.ymgme.2008.05.002
Source: PubMed


Three distinct clinical manifestations of carnitine palmitoyltransferase II (CPT II) deficiency have been defined including a mild adult onset myopathy, a severe infantile disorder and a lethal neonatal form. In this study we have examined the genomic DNA of five patients, 3 with the lethal neonatal form and 2 with the severe infantile form of the disease and identified two disease-causing mutations in the CPT2 gene for each patient, three of which are novel. In addition, based on currently available structural, biochemical and clinical data, we have classified all 64 known disease-causing mutations into groups with different predicted phenotypes depending on their CPT2 allelic counterparts.

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    • "Muscle CPT2 deficiency clinically manifests in patients harboring only a single heterozygous mutation [91]. Compound heterozygosity for a mild and a severe mutation can be associated with either the mild muscle or the severe multisystemic infantile form [92]. Several homozygous mutations have been reported, associated with either a prominent skeletal muscle involvement or with a severe generalized phenotype [93, 94]. Severe and intermediate phenotypes were found to correlate with biochemical indices and genetic analysis. "
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