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

Brain Dev. 2010 May;32(5):409-11. doi: 10.1016/j.braindev.2009.03.004. Epub 2009 Apr 3.

Abstract

Carnitine palmitoyl transferase I (CPT I) 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 I 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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carnitine O-Palmitoyltransferase / deficiency*
  • DNA Mutational Analysis / methods
  • Female
  • Humans
  • Infant, Newborn
  • Japan
  • Lipid Metabolism, Inborn Errors / diagnosis*
  • Lipid Metabolism, Inborn Errors / diet therapy
  • Lipid Metabolism, Inborn Errors / physiopathology
  • Neonatal Screening / methods*
  • Tandem Mass Spectrometry / methods*

Substances

  • Carnitine O-Palmitoyltransferase