Literature DB >> 12872843

3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.

V R Sutton1, W E O'Brien, G D Clark, J Kim, R J A Wanders.   

Abstract

A boy now 8 years old presented at 21 months of age with developmental arrest, followed by regression, cortical blindness and myoclonic seizures. Urine organic acid analysis revealed 3-hydroxy-2-methylbutyric acid and tiglyglycine; 3-ketothiolase enzyme activity was normal and he was subsequently found to have 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.

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Year:  2003        PMID： 12872843     DOI： 10.1023/a:1024083715568

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  2 in total

1.  Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism.

Authors:  J Zschocke; J P Ruiter; J Brand; M Lindner; G F Hoffmann; R J Wanders; E Mayatepek
Journal:  Pediatr Res       Date:  2000-12       Impact factor: 3.756

2.  Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.

Authors:  Regina Ensenauer; Helmut Niederhoff; Jos P N Ruiter; Ronald J A Wanders; K Otfried Schwab; Matthias Brandis; Willy Lehnert
Journal:  Ann Neurol       Date:  2002-05       Impact factor: 10.422
  2 in total
  13 in total

Review 1.  Amyloid-beta-induced mitochondrial dysfunction.

Authors:  John Xi Chen; Shi Du Yan
Journal:  J Alzheimers Dis       Date:  2007-09       Impact factor: 4.472

2.  Clinical and molecular analysis of 6 Chinese patients with isoleucine metabolism defects: identification of 3 novel mutations in the HSD17B10 and ACAT1 gene.

Authors:  Ling Su; Xiuzhen Li; Ruizhu Lin; Huiying Sheng; Zhichun Feng; Li Liu
Journal:  Metab Brain Dis       Date:  2017-09-05       Impact factor: 3.584

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

Authors:  Toshiyuki Fukao; Kazuhisa Akiba; Masahiro Goto; Nobuki Kuwayama; Mikiko Morita; Tomohiro Hori; Yuka Aoyama; Rajaram Venkatesan; Rik Wierenga; Yohsuke Moriyama; Takashi Hashimoto; Nobuteru Usuda; Kei Murayama; Akira Ohtake; Yuki Hasegawa; Yosuke Shigematsu; Yukihiro Hasegawa
Journal:  J Hum Genet       Date:  2014-09-18       Impact factor: 3.172

Review 4.  HSD10 disease: clinical consequences of mutations in the HSD17B10 gene.

Authors:  Johannes Zschocke
Journal:  J Inherit Metab Dis       Date:  2011-11-30       Impact factor: 4.982

5.  Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression.

Authors:  Shohei Akagawa; Toshiyuki Fukao; Yuko Akagawa; Hideo Sasai; Urara Kohdera; Minoru Kino; Yosuke Shigematsu; Yuka Aoyama; Kazunari Kaneko
Journal:  JIMD Rep       Date:  2016-06-16

6.  Evidence that 2-methylacetoacetate induces oxidative stress in rat brain.

Authors:  Guilhian Leipnitz; Bianca Seminotti; Alexandre U Amaral; Carolina G Fernandes; Carlos S Dutra-Filho; Moacir Wajner
Journal:  Metab Brain Dis       Date:  2010-09-14       Impact factor: 3.584

7.  X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.

Authors:  Judit García-Villoria; Laura Gort; Irene Madrigal; Carme Fons; Cristina Fernández; Aleix Navarro-Sastre; Montserrat Milà; Paz Briones; Angeles García-Cazorla; Jaume Campistol; Antonia Ribes
Journal:  Eur J Hum Genet       Date:  2010-07-28       Impact factor: 4.246

8.  A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression.

Authors:  Marni J Falk; Xiaowu Gai; Megumi Shigematsu; Elisa Vilardo; Ryuichi Takase; Elizabeth McCormick; Thomas Christian; Emily Place; Eric A Pierce; Mark Consugar; Howard B Gamper; Walter Rossmanith; Ya-Ming Hou
Journal:  RNA Biol       Date:  2016-03-07       Impact factor: 4.652

9.  Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism.

Authors:  Song-Yu Yang; Xue-Ying He; Simon E Olpin; Vernon R Sutton; Joe McMenamin; Manfred Philipp; Robert B Denman; Mazhar Malik
Journal:  Proc Natl Acad Sci U S A       Date:  2009-08-17       Impact factor: 11.205

10.  Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings.

Authors:  Annely Richardson; Gerard T Berry; Cheryl Garganta; Mary-Alice Abbott
Journal:  JIMD Rep       Date:  2016-06-14
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