Ketotic hypoglycemia in patients with Down syndrome

ABSTRACT Background Ketotic hypoglycemia (KH) without an identifiable underlying metabolic or hormonal disease is historically named idiopathic KH. The prevalence is unknown, but idiopathic KH is considered the most frequent cause of hypoglycemia beyond the neonatal period. KH in Down syndrome (DS)...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Danielle Drachmann, Austin Carrigg, David A. Weinstein, Jacob Sten Petersen, Henrik Thybo Christesen
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	Down syndrome GYG2 hypoglycemia ketones survey Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470
Acceso en línea:	https://doaj.org/article/598744c01ba84884a24612bc93e2281a
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:598744c01ba84884a24612bc93e2281a
record_format	dspace
spelling	oai:doaj.org-article:598744c01ba84884a24612bc93e2281a2021-11-08T13:27:19ZKetotic hypoglycemia in patients with Down syndrome2192-831210.1002/jmd2.12241https://doaj.org/article/598744c01ba84884a24612bc93e2281a2021-11-01T00:00:00Zhttps://doi.org/10.1002/jmd2.12241https://doaj.org/toc/2192-8312ABSTRACT Background Ketotic hypoglycemia (KH) without an identifiable underlying metabolic or hormonal disease is historically named idiopathic KH. The prevalence is unknown, but idiopathic KH is considered the most frequent cause of hypoglycemia beyond the neonatal period. KH in Down syndrome (DS) has not been reported. Methods We conducted a web‐based survey on KH in DS through the non‐profit patient organization Ketotic Hypoglycemia International. The responses were evaluated for consistency with KH by two authors. Two DS patient histories with documented KH were shared in more details. Results Survey data on 139 DS patients were obtained. After validation, 10 patients (7.2%) had reported episodes of documented hypoglycemia, ketosis, and/or symptoms compatible with KH beyond the neonatal period. Glucose concentrations ranged 1.2‐2.9 mmol/L; betahydroxybutyrate was up to 5.5 mmol/L during hypoglycemia. One girl had trisomy 21 with no response to i.m. glucagon also had a heterozygous Xp22.23 deletion including GYG2, which protein, glycogenin 2, is a substrate for glycogen synthase. Treatment with extended release cornstarch was effective. Conclusion This is the first demonstration of a possible high prevalence of KH in DS. Even though this finding needs to be confirmed in other research settings, identification of KH in DS could have a dramatic impact, as simple treatments with cornstarch, protein and frequent meals may prevent KH attacks and, analogous to other conditions with KH, improve growth, stamina and prevent overeating and obesity. GYG2 deletion may contribute to KH in DS, resembling glycogen storage disease type 0.Danielle DrachmannAustin CarriggDavid A. WeinsteinJacob Sten PetersenHenrik Thybo ChristesenWileyarticleDown syndromeGYG2hypoglycemiaketonessurveyDiseases of the endocrine glands. Clinical endocrinologyRC648-665GeneticsQH426-470ENJIMD Reports, Vol 62, Iss 1, Pp 70-73 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Down syndrome GYG2 hypoglycemia ketones survey Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470
spellingShingle	Down syndrome GYG2 hypoglycemia ketones survey Diseases of the endocrine glands. Clinical endocrinology RC648-665 Genetics QH426-470 Danielle Drachmann Austin Carrigg David A. Weinstein Jacob Sten Petersen Henrik Thybo Christesen Ketotic hypoglycemia in patients with Down syndrome
description	ABSTRACT Background Ketotic hypoglycemia (KH) without an identifiable underlying metabolic or hormonal disease is historically named idiopathic KH. The prevalence is unknown, but idiopathic KH is considered the most frequent cause of hypoglycemia beyond the neonatal period. KH in Down syndrome (DS) has not been reported. Methods We conducted a web‐based survey on KH in DS through the non‐profit patient organization Ketotic Hypoglycemia International. The responses were evaluated for consistency with KH by two authors. Two DS patient histories with documented KH were shared in more details. Results Survey data on 139 DS patients were obtained. After validation, 10 patients (7.2%) had reported episodes of documented hypoglycemia, ketosis, and/or symptoms compatible with KH beyond the neonatal period. Glucose concentrations ranged 1.2‐2.9 mmol/L; betahydroxybutyrate was up to 5.5 mmol/L during hypoglycemia. One girl had trisomy 21 with no response to i.m. glucagon also had a heterozygous Xp22.23 deletion including GYG2, which protein, glycogenin 2, is a substrate for glycogen synthase. Treatment with extended release cornstarch was effective. Conclusion This is the first demonstration of a possible high prevalence of KH in DS. Even though this finding needs to be confirmed in other research settings, identification of KH in DS could have a dramatic impact, as simple treatments with cornstarch, protein and frequent meals may prevent KH attacks and, analogous to other conditions with KH, improve growth, stamina and prevent overeating and obesity. GYG2 deletion may contribute to KH in DS, resembling glycogen storage disease type 0.
format	article
author	Danielle Drachmann Austin Carrigg David A. Weinstein Jacob Sten Petersen Henrik Thybo Christesen
author_facet	Danielle Drachmann Austin Carrigg David A. Weinstein Jacob Sten Petersen Henrik Thybo Christesen
author_sort	Danielle Drachmann
title	Ketotic hypoglycemia in patients with Down syndrome
title_short	Ketotic hypoglycemia in patients with Down syndrome
title_full	Ketotic hypoglycemia in patients with Down syndrome
title_fullStr	Ketotic hypoglycemia in patients with Down syndrome
title_full_unstemmed	Ketotic hypoglycemia in patients with Down syndrome
title_sort	ketotic hypoglycemia in patients with down syndrome
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/598744c01ba84884a24612bc93e2281a
work_keys_str_mv	AT danielledrachmann ketotichypoglycemiainpatientswithdownsyndrome AT austincarrigg ketotichypoglycemiainpatientswithdownsyndrome AT davidaweinstein ketotichypoglycemiainpatientswithdownsyndrome AT jacobstenpetersen ketotichypoglycemiainpatientswithdownsyndrome AT henrikthybochristesen ketotichypoglycemiainpatientswithdownsyndrome
_version_	1718442239652265984

Ketotic hypoglycemia in patients with Down syndrome

Ejemplares similares