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

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)409-411
Number of pages3
JournalBrain and Development
Volume32
Issue number5
DOIs
Publication statusPublished - 2010 May

Keywords

  • CPT IA
  • Carnitine palmitoyl transferase I
  • Newborn screening
  • Tandem mass spectrometry

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

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    Tsuburaya, R., Sakamoto, O., Arai, N., Kobayashi, H., Hasegawa, Y., Yamaguchi, S., Shigematsu, Y., Takayanagi, M., Ohura, T., & Tsuchiya, S. (2010). Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase I (CPT I) deficiency detected by tandem mass spectrometry newborn screening in Japan. Brain and Development, 32(5), 409-411. https://doi.org/10.1016/j.braindev.2009.03.004