Identification of Four Novel Mutations in Patients with Carnitine Palmitoyltransferase II (CPT II) Deficiency

• Published in: Molecular genetics and metabolism Vol. 64; no. 4; pp. 229 - 236
• Main Authors: Yang, Bing-Zhi, Ding, Jia-Huan, Dewese, Tracy, Roe, Diane, He, Guocheng, Wilkinson, Jeff, Day, Donald W., Demaugre, France, Rabier, Daniel, Brivet, Michele, Roe, Charles
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.08.1998
• Subjects: Adult; Age of Onset; Base Sequence; Carnitine O-Palmitoyltransferase - deficiency; carnitine palmitoyltransferase II (CPT II); Cells, Cultured; DNA - genetics; DNA Primers; Genotype; Humans; Infant; Infant, Newborn; long-chain fatty acids; Metabolism, Inborn Errors - enzymology; Metabolism, Inborn Errors - genetics; Mitochondria - metabolism; mitochondrial β-oxidation; Mutation; Oxidation-Reduction; Phenotype; mitochondrial β-oxidation; mutation; carnitine palmitoyltransferase II (CPT II); long-chain fatty acids

Carnitine palmitoyltransferase II (CPT II) deficiency, an autosomal recessive disorder of fatty-acid oxidation, presents as three distinct phenotypes (neonatal, infantile, and adult onset). In order to investigate the molecular basis of these three phenotypes, six patients with CPT II deficiency hav...