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

作者：Tsuburaya Rie; Sakamoto Osamu^*; Arai Natsuko; Kobayashi Hironori; Hasegawa Yuki; Yamaguchi Seiji; Shigematsu Yosuke; Takayanagi Masaki; Ohura Toshihiro; Tsuchiya Shigeru

来源：Brain & Development, 2010, 32(5): 409-411.

DOI：10.1016/j.braindev.2009.03.004

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

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.

• 出版日期2010-5