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

doi:10.1016/j.braindev.2009.03.004

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

HOSP - Pediatrics

Research output: Contribution to journal › Article › peer-review

9 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 language	English
Pages (from-to)	409-411
Number of pages	3
Journal	Brain and Development
Volume	32
Issue number	5
DOIs	https://doi.org/10.1016/j.braindev.2009.03.004
Publication status	Published - 2010 May

Keywords

CPT IA
Carnitine palmitoyl transferase I
Newborn screening
Tandem mass spectrometry

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10.1016/j.braindev.2009.03.004

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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

@article{34f153ca08564ee39b034fce6b41f3e8,

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

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.",

keywords = "CPT IA, Carnitine palmitoyl transferase I, Newborn screening, Tandem mass spectrometry",

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

note = "Funding Information: This work was partly supported by grant from The Ministry of Health, Labor and Welfare of Japan.",

year = "2010",

month = may,

doi = "10.1016/j.braindev.2009.03.004",

language = "English",

volume = "32",

pages = "409--411",

journal = "Brain and Development",

issn = "0387-7604",

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number = "5",

}

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, vol. 32, no. 5, pp. 409-411. https://doi.org/10.1016/j.braindev.2009.03.004

TY - JOUR

T1 - Molecular analysis of a presymptomatic case of carnitine palmitoyl transferase I (CPT I) deficiency detected by tandem mass spectrometry newborn screening in Japan

AU - Tsuburaya, Rie

AU - Sakamoto, Osamu

AU - Arai, Natsuko

AU - Kobayashi, Hironori

AU - Hasegawa, Yuki

AU - Yamaguchi, Seiji

AU - Shigematsu, Yosuke

AU - Takayanagi, Masaki

AU - Ohura, Toshihiro

AU - Tsuchiya, Shigeru

N1 - Funding Information: This work was partly supported by grant from The Ministry of Health, Labor and Welfare of Japan.

PY - 2010/5

Y1 - 2010/5

N2 - 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.

AB - 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.

KW - CPT IA

KW - Carnitine palmitoyl transferase I

KW - Newborn screening

KW - Tandem mass spectrometry

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U2 - 10.1016/j.braindev.2009.03.004

DO - 10.1016/j.braindev.2009.03.004

M3 - Article

C2 - 19345525

AN - SCOPUS:77951024685

SN - 0387-7604

VL - 32

SP - 409

EP - 411

JO - Brain and Development

JF - Brain and Development

IS - 5

ER -

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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Keywords

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