Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency

Jamiyan Purevsuren, Yuki Hasegawa, Seiji Fukuda, Hironori Kobayashi, Yuichi Mushimoto, Kenji Yamada, Tomoo Takahashi, Toshiyuki Fukao, Seiji Yamaguchi

Research output: Contribution to journalArticle

Abstract

We report the outcome of 16 Japanese patients with medium chain acyl-CoA dehydrogenase deficiency. Of them, 7 patients were diagnosed after metabolic crisis, while 9 were detected in the asymptomatic condition. Of the 7 symptomatic cases, 1 died suddenly, and 4 cases had delayed development. All 9 patients identified by neonatal or sibling screening remained healthy. Of 14 mutations identified, 10 were unique for Japanese, and 4 were previously reported in other nationalities. Presymptomatic detection including neonatal screening obviously improves quality of life of Japanese patients, probably regardless of the genotypes.

Original languageEnglish
Pages (from-to)237-240
Number of pages4
JournalMolecular Genetics and Metabolism
Volume107
Issue number1-2
DOIs
Publication statusPublished - Sep 1 2012
Externally publishedYes

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Inborn Errors Lipid Metabolism
Acyl-CoA Dehydrogenase
Mass Screening
Genetic Association Studies
Preschool Children
Exons
Japan
Fatty Acids
Alleles
Genotype
Mutation
Asymptomatic Diseases
Neonatal Screening
Ethnic Groups
Siblings
Quality of Life
Medium chain acyl CoA dehydrogenase deficiency

All Science Journal Classification (ASJC) codes

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

Cite this

Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency. / Purevsuren, Jamiyan; Hasegawa, Yuki; Fukuda, Seiji; Kobayashi, Hironori; Mushimoto, Yuichi; Yamada, Kenji; Takahashi, Tomoo; Fukao, Toshiyuki; Yamaguchi, Seiji.

In: Molecular Genetics and Metabolism, Vol. 107, No. 1-2, 01.09.2012, p. 237-240.

Research output: Contribution to journalArticle

Purevsuren, J, Hasegawa, Y, Fukuda, S, Kobayashi, H, Mushimoto, Y, Yamada, K, Takahashi, T, Fukao, T & Yamaguchi, S 2012, 'Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency', Molecular Genetics and Metabolism, vol. 107, no. 1-2, pp. 237-240. https://doi.org/10.1016/j.ymgme.2012.06.010
Purevsuren, Jamiyan ; Hasegawa, Yuki ; Fukuda, Seiji ; Kobayashi, Hironori ; Mushimoto, Yuichi ; Yamada, Kenji ; Takahashi, Tomoo ; Fukao, Toshiyuki ; Yamaguchi, Seiji. / Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency. In: Molecular Genetics and Metabolism. 2012 ; Vol. 107, No. 1-2. pp. 237-240.
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