Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism

Abstract Congenital hyperinsulinism (CHI), a major cause of persistent and recurrent hypoglycemia in infancy and childhood. Numerous pathogenic genes have been associated with 14 known genetic subtypes of CHI. Adenosine triphosphate-sensitive potassium channel hyperinsulinism (KATP-HI) is the most c...

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Autores principales:	Wei Zhang, Yan-Mei Sang
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Congenital hyperinsulinism (CHI) Hypoglycemia Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism (SCHAD-HI) Hydroxyacyl-coenzyme A dehydrogenase (HADH) gene Medicine R
Acceso en línea:	https://doaj.org/article/2908596c4be040aa945717fa264cffa3
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spelling	oai:doaj.org-article:2908596c4be040aa945717fa264cffa32021-11-08T10:57:00ZGenetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism10.1186/s13023-021-02088-61750-1172https://doaj.org/article/2908596c4be040aa945717fa264cffa32021-11-01T00:00:00Zhttps://doi.org/10.1186/s13023-021-02088-6https://doaj.org/toc/1750-1172Abstract Congenital hyperinsulinism (CHI), a major cause of persistent and recurrent hypoglycemia in infancy and childhood. Numerous pathogenic genes have been associated with 14 known genetic subtypes of CHI. Adenosine triphosphate-sensitive potassium channel hyperinsulinism (KATP-HI) is the most common and most severe subtype, accounting for 40–50% of CHI cases. Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism (SCHAD-HI) is a rare subtype that accounts for less than 1% of all CHI cases that are caused by homozygous mutations in the hydroxyacyl-coenzyme A dehydrogenase (HADH) gene. This review provided a systematic description of the genetic pathogenesis and current progress in the diagnosis and treatment of SCHAD-HI to improve our understanding of this disease.Wei ZhangYan-Mei SangBMCarticleCongenital hyperinsulinism (CHI)HypoglycemiaShort-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism (SCHAD-HI)Hydroxyacyl-coenzyme A dehydrogenase (HADH) geneMedicineRENOrphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Congenital hyperinsulinism (CHI) Hypoglycemia Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism (SCHAD-HI) Hydroxyacyl-coenzyme A dehydrogenase (HADH) gene Medicine R
spellingShingle	Congenital hyperinsulinism (CHI) Hypoglycemia Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism (SCHAD-HI) Hydroxyacyl-coenzyme A dehydrogenase (HADH) gene Medicine R Wei Zhang Yan-Mei Sang Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism
description	Abstract Congenital hyperinsulinism (CHI), a major cause of persistent and recurrent hypoglycemia in infancy and childhood. Numerous pathogenic genes have been associated with 14 known genetic subtypes of CHI. Adenosine triphosphate-sensitive potassium channel hyperinsulinism (KATP-HI) is the most common and most severe subtype, accounting for 40–50% of CHI cases. Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism (SCHAD-HI) is a rare subtype that accounts for less than 1% of all CHI cases that are caused by homozygous mutations in the hydroxyacyl-coenzyme A dehydrogenase (HADH) gene. This review provided a systematic description of the genetic pathogenesis and current progress in the diagnosis and treatment of SCHAD-HI to improve our understanding of this disease.
format	article
author	Wei Zhang Yan-Mei Sang
author_facet	Wei Zhang Yan-Mei Sang
author_sort	Wei Zhang
title	Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism
title_short	Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism
title_full	Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism
title_fullStr	Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism
title_full_unstemmed	Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism
title_sort	genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme a dehydrogenase hyperinsulinism
publisher	BMC
publishDate	2021
url	https://doaj.org/article/2908596c4be040aa945717fa264cffa3
work_keys_str_mv	AT weizhang geneticpathogenesisdiagnosisandtreatmentofshortchain3hydroxyacylcoenzymeadehydrogenasehyperinsulinism AT yanmeisang geneticpathogenesisdiagnosisandtreatmentofshortchain3hydroxyacylcoenzymeadehydrogenasehyperinsulinism
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Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism

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