Case Reports
doi: 10.1016/j.braindev.2009.03.004.
Epub 2009 Apr 3.
Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase I (CPT I) deficiency detected by tandem mass spectrometry newborn screening in Japan
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- PMID: 19345525
- DOI: 10.1016/j.braindev.2009.03.004
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Case Reports
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.
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.
Copyright 2009 Elsevier B.V. All rights reserved.
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