Literature DB >> 15669687

Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation.

N Longo1, T Fukao, R Singh, M Pasquali, R G Barrios, N Kondo, K M Gibson.   

Abstract

SCOT deficiency presents with persistent excess of ketones leading to ketoacidosis. Here we report patient GS15, homozygous for a novel R217X mutation, who had the first apparent ketoacidotic crisis at 8 months of age. Before confirmation of diagnosis, daily dialysis was the only mechanism by which to normalize her persistent metabolic acidosis of unknown aetiology.

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Year:  2004        PMID： 15669687     DOI： 10.1023/b:boli.0000043023.57321.18

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


  11 in total

1.  Evaluation of diagnostic fasting in the investigation of hypoglycemia in children omani experienc.

Authors:  Bhasker Bappal; Waad-Allah Mula-Abed
Journal:  Oman Med J       Date:  2007-10

2.  Obligate role for ketone body oxidation in neonatal metabolic homeostasis.

Authors:  David G Cotter; D André d'Avignon; Anna E Wentz; Mary L Weber; Peter A Crawford
Journal:  J Biol Chem       Date:  2011-01-05       Impact factor: 5.157

3.  Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis.

Authors:  Hideo Sasai; Yuka Aoyama; Hiroki Otsuka; Elsayed Abdelkreem; Yasuhiro Naiki; Mitsuru Kubota; Yuji Sekine; Masatsune Itoh; Mina Nakama; Hidenori Ohnishi; Ryoji Fujiki; Osamu Ohara; Toshiyuki Fukao
Journal:  J Inherit Metab Dis       Date:  2017-07-10       Impact factor: 4.982

4.  Successful adaptation to ketosis by mice with tissue-specific deficiency of ketone body oxidation.

Authors:  David G Cotter; Rebecca C Schugar; Anna E Wentz; D André d'Avignon; Peter A Crawford
Journal:  Am J Physiol Endocrinol Metab       Date:  2012-12-11       Impact factor: 4.310

5.  A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene.

Authors:  Toshiyuki Fukao; Tomohiro Ishii; Naoko Amano; Petri Kursula; Masaki Takayanagi; Keiko Murase; Naomi Sakaguchi; Naomi Kondo; Tomonobu Hasegawa
Journal:  J Inherit Metab Dis       Date:  2010-07-21       Impact factor: 4.982

6.  A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the OXCT1 Gene.

Authors:  Daniel J Zheng; Michael Hooper; Michele Spencer-Manzon; Richard W Pierce
Journal:  J Pediatr Intensive Care       Date:  2017-07-19

Review 7.  Multi-dimensional Roles of Ketone Bodies in Fuel Metabolism, Signaling, and Therapeutics.

Authors:  Patrycja Puchalska; Peter A Crawford
Journal:  Cell Metab       Date:  2017-02-07       Impact factor: 27.287

Review 8.  Ketone body metabolism and cardiovascular disease.

Authors:  David G Cotter; Rebecca C Schugar; Peter A Crawford
Journal:  Am J Physiol Heart Circ Physiol       Date:  2013-02-08       Impact factor: 4.733

Review 9.  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

10.  A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.

Authors:  Naeem Shafqat; Kate L Kavanagh; Jörn Oliver Sass; Ernst Christensen; Toshiyuki Fukao; Wen Hwa Lee; Udo Oppermann; Wyatt W Yue
Journal:  J Inherit Metab Dis       Date:  2013-02-19       Impact factor: 4.982
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