A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD

Jamiyan Purevsuren; Hironori Kobayashi; Yuki Hasegawa; Yuichi Mushimoto; Hong Li; Seiji Fukuda; Yosuke Shigematsu; Toshiyuki Fukao; Seiji Yamaguchi

doi:10.1016/j.ymgme.2008.10.012

A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD

Jamiyan Purevsuren, Hironori Kobayashi, Yuki Hasegawa, Yuichi Mushimoto, Hong Li, Seiji Fukuda, Yosuke Shigematsu, Toshiyuki Fukao, Seiji Yamaguchi

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

21 Citations (Scopus)

Abstract

We studied 11 Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD) and found a common mutation, c.449-452delCTGA, which accounted for 45% of the mutations. Seven of 10 independent patients carried at least one copy of this mutation. Phenotypes of homozygous patients with the c.449-452delCTGA mutation varied from asymptomatic to life-threatening metabolic decompensation in Japanese patients with MCADD, similar to the phenotypic variations in Caucasians. This study suggests the genotypic difference between those of Caucasians and Japanese regarding MCADD.

Original language	English
Pages (from-to)	77-79
Number of pages	3
Journal	Molecular Genetics and Metabolism
Volume	96
Issue number	2
DOIs	https://doi.org/10.1016/j.ymgme.2008.10.012
Publication status	Published - Feb 2009
Externally published	Yes

All Science Journal Classification (ASJC) codes

Endocrinology, Diabetes and Metabolism
Biochemistry
Molecular Biology
Genetics
Endocrinology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.ymgme.2008.10.012

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Purevsuren, J., Kobayashi, H., Hasegawa, Y., Mushimoto, Y., Li, H., Fukuda, S., Shigematsu, Y., Fukao, T., & Yamaguchi, S. (2009). A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD. Molecular Genetics and Metabolism, 96(2), 77-79. https://doi.org/10.1016/j.ymgme.2008.10.012

A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD. / Purevsuren, Jamiyan; Kobayashi, Hironori; Hasegawa, Yuki et al.
In: Molecular Genetics and Metabolism, Vol. 96, No. 2, 02.2009, p. 77-79.

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

Purevsuren, J, Kobayashi, H, Hasegawa, Y, Mushimoto, Y, Li, H, Fukuda, S, Shigematsu, Y, Fukao, T & Yamaguchi, S 2009, 'A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD', Molecular Genetics and Metabolism, vol. 96, no. 2, pp. 77-79. https://doi.org/10.1016/j.ymgme.2008.10.012

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title = "A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD",

abstract = "We studied 11 Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD) and found a common mutation, c.449-452delCTGA, which accounted for 45% of the mutations. Seven of 10 independent patients carried at least one copy of this mutation. Phenotypes of homozygous patients with the c.449-452delCTGA mutation varied from asymptomatic to life-threatening metabolic decompensation in Japanese patients with MCADD, similar to the phenotypic variations in Caucasians. This study suggests the genotypic difference between those of Caucasians and Japanese regarding MCADD.",

author = "Jamiyan Purevsuren and Hironori Kobayashi and Yuki Hasegawa and Yuichi Mushimoto and Hong Li and Seiji Fukuda and Yosuke Shigematsu and Toshiyuki Fukao and Seiji Yamaguchi",

note = "Funding Information: We thank a number of referring physicians who suspected metabolic disorders, spent their precious time to send us patients{\textquoteright} samples, and provided clinical information, making this work possible, and Ms.M. Furui for technical cassisance. This study was partly supported by grants from the Ministry of Education, Culture, Sports, Science, and Technology of Japan, the Ministry of Health, Labour and Welfare of Japan (Research on Children and Families), and the Program for Promotion of Fundamental Studies in Health Sciences of the National Institute of Biomedical Innovation (NIBIO) of Japan. ",

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AU - Li, Hong

AU - Fukuda, Seiji

AU - Shigematsu, Yosuke

AU - Fukao, Toshiyuki

AU - Yamaguchi, Seiji

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A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD

Abstract

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