Literature DB >> 12072887

The diagnosis of mitochondrial HMG-CoA synthase deficiency.

Johannes Zschocke1, Johannes M Penzien, Rainer Bielen, Núria Casals, Rosa Aledo, Juan Pié, Georg F Hoffmann, Fausto G Hegardt, Ertan Mayatepek.   

Abstract

Deficiency of 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase, the only disorder exclusively affecting hepatic ketogenesis, is a cause of hypoglycemic coma. We report that the diagnosis can be made by typical laboratory findings (hypoketosis, elevated free fatty acids, normal acylcarnitines, specific urinary organic acids) during acute episodes.

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Year:  2002        PMID： 12072887     DOI： 10.1067/mpd.2002.123854

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  13 in total

1.  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

2.  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 3.  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

4.  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

5.  Mitochondrial protein thiol modifications in acetaminophen hepatotoxicity: effect on HMG-CoA synthase.

Authors:  Kelly K Andringa; Mary Lynn Bajt; Hartmut Jaeschke; Shannon M Bailey
Journal:  Toxicol Lett       Date:  2008-01-31       Impact factor: 4.372

Review 6.  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

7.  Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients.

Authors:  Beatriz Puisac; Iñigo Marcos-Alcalde; María Hernández-Marcos; Pilar Tobajas Morlana; Alina Levtova; Bernd C Schwahn; Corinne DeLaet; Baiba Lace; Paulino Gómez-Puertas; Juan Pié
Journal:  Int J Mol Sci       Date:  2018-03-28       Impact factor: 5.923

8.  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

9.  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

Review 10.  Lipoproteins, cholesterol homeostasis and cardiac health.

Authors:  Tyler F Daniels; Karen M Killinger; Jennifer J Michal; Raymond W Wright; Zhihua Jiang
Journal:  Int J Biol Sci       Date:  2009-06-29       Impact factor: 6.580
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