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

Rie Tsuburaya, Osamu Sakamoto, Natsuko Arai, Hironori Kobayashi, Yuki Hasegawa, Seiji Yamaguchi, Yosuke Shigematsu, Masaki Takayanagi, Toshihiro Ohura, Shigeru Tsuchiya

研究成果: Article査読

5 被引用数 (Scopus)

抄録

Carnitine palmitoyl transferase I{cyrillic, ukrainian} (CPT I{cyrillic, ukrainian}) 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{cyrillic, ukrainian} 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.

本文言語English
ページ(範囲)409-411
ページ数3
ジャーナルBrain and Development
32
5
DOI
出版ステータスPublished - 2010 5

ASJC Scopus subject areas

  • 小児科学、周産期医学および子どもの健康
  • 発達神経科学
  • 臨床神経学

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