A Turkish Patient With Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Mimicking Diabetic Ketoacidosis

Succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency is an autosomal recessive disorder of ketone body utilization that is clinically characterized with intermittent ketoacidosis crises. We report here the second Turkish case with SCOT deficiency. She experienced 3 ketoacidotic episodes: The fir...

Full description

Bibliographic Details
Main Authors:	Sahin Erdol MD, Mehmet Ture MD, Tahsin Yakut PhD, Halil Saglam PhD, Hideo Sasai MD, Elsayed Abdelkreem MD, Hiroki Otsuka MD, Toshiyuki Fukao MD, PhD
Format:	Article
Language:	English
Published:	SciELO 2016-05-01
Series:	Journal of Inborn Errors of Metabolism and Screening
Online Access:	https://doi.org/10.1177/2326409816651281

id	doaj-1f6beff17898491787ca450ad33d0315
record_format	Article
spelling	doaj-1f6beff17898491787ca450ad33d03152020-11-25T01:08:24ZengSciELOJournal of Inborn Errors of Metabolism and Screening 2326-45942016-05-01410.1177/232640981665128110.1177_2326409816651281A Turkish Patient With Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Mimicking Diabetic KetoacidosisSahin Erdol MD0Mehmet Ture MD1Tahsin Yakut PhD2Halil Saglam PhD3Hideo Sasai MD4Elsayed Abdelkreem MD5Hiroki Otsuka MD6Toshiyuki Fukao MD, PhD7 Division of Metabolism, Department of Pediatrics, Uludağ University Faculty of Medicine, Görükle, Bursa, Turkey Department of Medical Genetics, Uludağ University, Görükle, Bursa, Turkey Department of Medical Genetics, Uludağ University, Görükle, Bursa, Turkey Division of Metabolism, Department of Pediatrics, Uludağ University Faculty of Medicine, Görükle, Bursa, Turkey Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, JapanSuccinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency is an autosomal recessive disorder of ketone body utilization that is clinically characterized with intermittent ketoacidosis crises. We report here the second Turkish case with SCOT deficiency. She experienced 3 ketoacidotic episodes: The first ketoacidotic crisis mimicked diabetic ketoacidosis because of the associated hyperglycemia. Among patients with SCOT deficiency, the blood glucose levels at the first crises were variable, and this case had the highest ever reported blood glucose level. She is a compound heterozygote with 2 novel mutations, c.517A>G (K173E) and c.1543A>G (M515V), in exons 5 and 17 of the OXCT1 gene, respectively. In patient’s fibroblasts, SCOT activity was deficient and, by immunoblot analysis, SCOT protein was much reduced. The patient attained normal development and had no permanent ketosis. The accurate diagnosis of SCOT deficiency in this case had a vital impact on the management strategy and outcome.https://doi.org/10.1177/2326409816651281
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Sahin Erdol MD Mehmet Ture MD Tahsin Yakut PhD Halil Saglam PhD Hideo Sasai MD Elsayed Abdelkreem MD Hiroki Otsuka MD Toshiyuki Fukao MD, PhD
spellingShingle	Sahin Erdol MD Mehmet Ture MD Tahsin Yakut PhD Halil Saglam PhD Hideo Sasai MD Elsayed Abdelkreem MD Hiroki Otsuka MD Toshiyuki Fukao MD, PhD A Turkish Patient With Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Mimicking Diabetic Ketoacidosis Journal of Inborn Errors of Metabolism and Screening
author_facet	Sahin Erdol MD Mehmet Ture MD Tahsin Yakut PhD Halil Saglam PhD Hideo Sasai MD Elsayed Abdelkreem MD Hiroki Otsuka MD Toshiyuki Fukao MD, PhD
author_sort	Sahin Erdol MD
title	A Turkish Patient With Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Mimicking Diabetic Ketoacidosis
title_short	A Turkish Patient With Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Mimicking Diabetic Ketoacidosis
title_full	A Turkish Patient With Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Mimicking Diabetic Ketoacidosis
title_fullStr	A Turkish Patient With Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Mimicking Diabetic Ketoacidosis
title_full_unstemmed	A Turkish Patient With Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Mimicking Diabetic Ketoacidosis
title_sort	turkish patient with succinyl-coa:3-oxoacid coa transferase deficiency mimicking diabetic ketoacidosis
publisher	SciELO
series	Journal of Inborn Errors of Metabolism and Screening
issn	2326-4594
publishDate	2016-05-01
description	Succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency is an autosomal recessive disorder of ketone body utilization that is clinically characterized with intermittent ketoacidosis crises. We report here the second Turkish case with SCOT deficiency. She experienced 3 ketoacidotic episodes: The first ketoacidotic crisis mimicked diabetic ketoacidosis because of the associated hyperglycemia. Among patients with SCOT deficiency, the blood glucose levels at the first crises were variable, and this case had the highest ever reported blood glucose level. She is a compound heterozygote with 2 novel mutations, c.517A>G (K173E) and c.1543A>G (M515V), in exons 5 and 17 of the OXCT1 gene, respectively. In patient’s fibroblasts, SCOT activity was deficient and, by immunoblot analysis, SCOT protein was much reduced. The patient attained normal development and had no permanent ketosis. The accurate diagnosis of SCOT deficiency in this case had a vital impact on the management strategy and outcome.
url	https://doi.org/10.1177/2326409816651281
work_keys_str_mv	AT sahinerdolmd aturkishpatientwithsuccinylcoa3oxoacidcoatransferasedeficiencymimickingdiabeticketoacidosis AT mehmetturemd aturkishpatientwithsuccinylcoa3oxoacidcoatransferasedeficiencymimickingdiabeticketoacidosis AT tahsinyakutphd aturkishpatientwithsuccinylcoa3oxoacidcoatransferasedeficiencymimickingdiabeticketoacidosis AT halilsaglamphd aturkishpatientwithsuccinylcoa3oxoacidcoatransferasedeficiencymimickingdiabeticketoacidosis AT hideosasaimd aturkishpatientwithsuccinylcoa3oxoacidcoatransferasedeficiencymimickingdiabeticketoacidosis AT elsayedabdelkreemmd aturkishpatientwithsuccinylcoa3oxoacidcoatransferasedeficiencymimickingdiabeticketoacidosis AT hirokiotsukamd aturkishpatientwithsuccinylcoa3oxoacidcoatransferasedeficiencymimickingdiabeticketoacidosis AT toshiyukifukaomdphd aturkishpatientwithsuccinylcoa3oxoacidcoatransferasedeficiencymimickingdiabeticketoacidosis AT sahinerdolmd turkishpatientwithsuccinylcoa3oxoacidcoatransferasedeficiencymimickingdiabeticketoacidosis AT mehmetturemd turkishpatientwithsuccinylcoa3oxoacidcoatransferasedeficiencymimickingdiabeticketoacidosis AT tahsinyakutphd turkishpatientwithsuccinylcoa3oxoacidcoatransferasedeficiencymimickingdiabeticketoacidosis AT halilsaglamphd turkishpatientwithsuccinylcoa3oxoacidcoatransferasedeficiencymimickingdiabeticketoacidosis AT hideosasaimd turkishpatientwithsuccinylcoa3oxoacidcoatransferasedeficiencymimickingdiabeticketoacidosis AT elsayedabdelkreemmd turkishpatientwithsuccinylcoa3oxoacidcoatransferasedeficiencymimickingdiabeticketoacidosis AT hirokiotsukamd turkishpatientwithsuccinylcoa3oxoacidcoatransferasedeficiencymimickingdiabeticketoacidosis AT toshiyukifukaomdphd turkishpatientwithsuccinylcoa3oxoacidcoatransferasedeficiencymimickingdiabeticketoacidosis
_version_	1725182805233631232

A Turkish Patient With Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Mimicking Diabetic Ketoacidosis

Similar Items