Art

J-GLOBAL ID：201502286409425879   Reference number：15A0306456

The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation

非典型的症状を示す2-メチル-3-ヒドロキシブチリル-CoA脱水素酵素欠損症(HSD10病)のアジアにおける最初の症例

Author (18)： FUKAO Toshiyuki (Gifu Univ., Gifu, JPN) ,  AKIBA Kazuhisa (Tokyo Metropolitan Children’s Medical Center, Tokyo, JPN) ,  GOTO Masahiro (Tokyo Metropolitan Children’s Medical Center, Tokyo, JPN) ,  KUWAYAMA Nobuki (Gifu Univ., Gifu, JPN) ,  MORITA Mikiko (Gifu Univ., Gifu, JPN) ,  HORI Tomohiro (Gifu Univ., Gifu, JPN) ,  AOYAMA Yuka (Gifu Univ., Gifu, JPN) ,  VENKATESAN Rajaram (Univ. Oulu, Oulu, FIN) ,  WIERENGA Rik (Univ. Oulu, Oulu, FIN) ,  MORIYAMA Yohsuke (Fujita Health Univ. School of Medicine, Toyoake, JPN) ,  HASHIMOTO Takashi (Fujita Health Univ. School of Medicine, Toyoake, JPN) ,  USUDA Nobuteru (Fujita Health Univ. School of Medicine, Toyoake, JPN) ,  MURAYAMA Kei (Chiba Children’s Hospital, Chiba, JPN) ,  OHTAKE Akira (Tokyo Metropolitan Children’s Medical Center, Tokyo, JPN) ,  OHTAKE Akira (Saitama Medical Univ., Moroyama, JPN) ,  HASEGAWA Yuki (Shimane Univ. School of Medicine, Izumo, JPN) ,  SHIGEMATSU Yosuke (Univ. Fukui, Eiheiji-cho, JPN) ,  HASEGAWA Yukihiro (Tokyo Metropolitan Children’s Medical Center, Tokyo, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 59  Issue： 11  Page： 609-614  Publication year： Nov. 2014 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： enzymoprivicness ,...
Semi thesaurus term： genetic variation ,...

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JST classification (3)： Molecular genetics in general  (EC02010J) ,  Diagnostics of metabolic diseases,nutritional diseases.  (GD05020U) ,  Diagnostics of congenital diseases, deformities.  (GD03020G)

Substance index (2)： 3-Hydroxy-2-methylbutanoic acid ,  Tiglylglycine

Reference (31)：

• Zschocke, J., Ruiter, J. P., Brand, J., Lindner, M., Hoffmann, G. F., Wanders, R. J. et al. Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism. Pediatr. Res. 48, 852-855 (2000).
• Ofman, R., Ruiter, J. P., Feenstra, M., Duran, M., Poll-The, B. T., Zschocke, J. et al. 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. Am. J. Hum. Genet. 72, 1300-1307 (2003).
• Yang, S. Y., He, X. Y. & Miller, D. HSD17B10: a gene involved in cognitive function through metabolism of isoleucine and neuroactive steroids. Mol. Genet. Metab. 92, 36-42 (2007).
• Yang, S. Y., He, X. Y. & Schulz, H. Multiple functions of type 10 17beta-hydroxysteroid dehydrogenase. Trends Endocrinol. Metab. 16, 167-175 (2005).
• Zschocke, J. HSD10 disease: clinical consequences of mutations in the HSD17B10 gene. J. Inherited Metab. Dis 35, 81-89 (2012).

Terms in the title (6)： 症状 ,  3-ヒドロキシブチリル-CoA ,  脱水素 ,  酵素欠損症 ,  アジア ,  症例