Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase І (CPT I) deficiency detected by tandem mass spectrometry newborn screening in Japan

Abstract: Carnitine palmitoyl transferase І (CPT І) deficiency is a rare disorder of long-chain fatty acid oxidation. It is one of the metabolic diseases detectable by tandem mass spectrometry. We report herein a presymptomatic CPT І deficiency detected in a Japanese female newborn by tandem mass spectrometry newborn screening. A mutation analysis of the CPT1A gene revealed two novel mutations, p.R446X and p.G719D. [Copyright &y& Elsevier]