| Literature DB >> 19345525 |
Rie Tsuburaya1, Osamu Sakamoto, Natsuko Arai, Hironori Kobayashi, Yuki Hasegawa, Seiji Yamaguchi, Yosuke Shigematsu, Masaki Takayanagi, Toshihiro Ohura, Shigeru Tsuchiya.
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.Entities:
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Year: 2009 PMID： 19345525 DOI： 10.1016/j.braindev.2009.03.004
Source DB: PubMed Journal: Brain Dev ISSN： 0387-7604 Impact factor: 1.961