Literature DB >> 12647205

Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations.

Nicole I Wolf, Shamima Rahman, Peter T Clayton, Johannes Zschocke.   

Abstract

We report two additional patients in whom hypoketotic hypoglycaemia was caused by a deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (HMCM); two novel mutations were identified (V54M and Y167C), one of which directly involves the catalytic site of the enzyme.

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Year:  2003        PMID： 12647205     DOI： 10.1007/s00431-002-1110-x

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  14 in total

1.  Chronic exposure to a high-fat diet induces hepatic steatosis, impairs nitric oxide bioavailability, and modifies the mitochondrial proteome in mice.

Authors:  Heather B Eccleston; Kelly K Andringa; Angela M Betancourt; Adrienne L King; Sudheer K Mantena; Telisha M Swain; Heather N Tinsley; Ryan N Nolte; Tim R Nagy; Gary A Abrams; Shannon M Bailey
Journal:  Antioxid Redox Signal       Date:  2011-03-31       Impact factor: 8.401

2.  Ketogenesis prevents diet-induced fatty liver injury and hyperglycemia.

Authors:  David G Cotter; Baris Ercal; Xiaojing Huang; Jamison M Leid; D André d'Avignon; Mark J Graham; Dennis J Dietzen; Elizabeth M Brunt; Gary J Patti; Peter A Crawford
Journal:  J Clin Invest       Date:  2014-10-27       Impact factor: 14.808

3.  Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features.

Authors:  Erin Conboy; Filippo Vairo; Matthew Schultz; Katherine Agre; Ross Ridsdale; David Deyle; Devin Oglesbee; Dimitar Gavrilov; Eric W Klee; Brendan Lanpher
Journal:  JIMD Rep       Date:  2017-10-14

4.  Recurrent loss of HMGCS2 shows that ketogenesis is not essential for the evolution of large mammalian brains.

Authors:  David Jebb; Michael Hiller
Journal:  Elife       Date:  2018-10-16       Impact factor: 8.140

5.  Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency.

Authors:  R Aledo; C Mir; R N Dalton; C Turner; J Pié; F G Hegardt; N Casals; M P Champion
Journal:  J Inherit Metab Dis       Date:  2006-02       Impact factor: 4.982

Review 6.  Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations.

Authors:  James J Pitt; Heidi Peters; Avihu Boneh; Joy Yaplito-Lee; Stefanie Wieser; Katrin Hinderhofer; David Johnson; Johannes Zschocke
Journal:  J Inherit Metab Dis       Date:  2014-12-16       Impact factor: 4.982

7.  Novel HMGCS2 pathogenic variants in a Chinese family with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency.

Authors:  Pengfei Zhang; Xuyun Hu; Ruolan Guo; Jun Guo; Wei Li; Suyun Qian; Chanjuan Hao; Jun Liu
Journal:  Pediatr Investig       Date:  2019-06-25

Review 8.  Ketone body metabolism and its defects.

Authors:  Toshiyuki Fukao; Grant Mitchell; Jörn Oliver Sass; Tomohiro Hori; Kenji Orii; Yuka Aoyama
Journal:  J Inherit Metab Dis       Date:  2014-04-08       Impact factor: 4.982

9.  A Japanese case of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycemia.

Authors:  Tomoko Lee; Yuichi Takami; Kenji Yamada; Hironori Kobayashi; Yuki Hasegawa; Hideo Sasai; Hiroki Otsuka; Yasuhiro Takeshima; Toshiyuki Fukao
Journal:  JIMD Rep       Date:  2019-06-03

10.  Severe clinical manifestation of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency associated with two novel mutations: a case report.

Authors:  Hao Liu; Jing-Kun Miao; Chao-Wen Yu; Ke-Xing Wan; Juan Zhang; Zhao-Jian Yuan; Jing Yang; Dong-Juan Wang; Yan Zeng; Lin Zou
Journal:  BMC Pediatr       Date:  2019-10-09       Impact factor: 2.125
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