A NOVEL MUTATION IDENTIFIED IN CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY

Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disorder of mitochondrial fatty-acid oxidation which present s as three distinct phenotypes (neonatal, infantile, and adult onset). CPT II exons from an adult-onset CPT II-deficient patient were amplif ied and directly sequenced to further investigate the molecular basis of this disorder. A novel mutation, C471T, in exon 4 of the carnitine palmitoyltransferase II gene was found which created a stop codon, TGA , at residue 124 of the protein (R124Stop). This mutation would result in severe protein truncation. This unique mutation was found on one a llele while the S113L mutation, previously reported, was present on th e other allele. (C) 1998 Academic Press.