Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome

Abstract Glut1 deficiency syndrome is caused by SLC2A1 mutations on chromosome 1p34.2 that impairs glucose transport across the blood–brain barrier resulting in hypoglycorrhachia and decreased fuel for brain metabolism. Neuroglycopenia causes a drug‐resistant metabolic epilepsy due to energy deficie...

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Autores principales:	Santhi N. Logel, Ellen L. Connor, David A. Hsu, Rachel J. Fenske, Neil J. Paloian, Darryl C. De Vivo
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/1006b62dddf24bd2aac90a7b32bca90a
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spelling	oai:doaj.org-article:1006b62dddf24bd2aac90a7b32bca90a2021-11-22T11:11:52ZExploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome2328-950310.1002/acn3.51462https://doaj.org/article/1006b62dddf24bd2aac90a7b32bca90a2021-11-01T00:00:00Zhttps://doi.org/10.1002/acn3.51462https://doaj.org/toc/2328-9503Abstract Glut1 deficiency syndrome is caused by SLC2A1 mutations on chromosome 1p34.2 that impairs glucose transport across the blood–brain barrier resulting in hypoglycorrhachia and decreased fuel for brain metabolism. Neuroglycopenia causes a drug‐resistant metabolic epilepsy due to energy deficiency. Standard treatment for Glut1 deficiency syndrome is the ketogenic diet that decreases the demand for brain glucose by supplying ketones as alternative fuel. Treatment options are limited if patients fail the ketogenic diet. We present a case of successful diazoxide use with continuous glucose monitoring in a patient with Glut1 deficiency syndrome who did not respond to the ketogenic diet.Santhi N. LogelEllen L. ConnorDavid A. HsuRachel J. FenskeNeil J. PaloianDarryl C. De VivoWileyarticleNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571Neurology. Diseases of the nervous systemRC346-429ENAnnals of Clinical and Translational Neurology, Vol 8, Iss 11, Pp 2205-2209 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429
spellingShingle	Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429 Santhi N. Logel Ellen L. Connor David A. Hsu Rachel J. Fenske Neil J. Paloian Darryl C. De Vivo Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome
description	Abstract Glut1 deficiency syndrome is caused by SLC2A1 mutations on chromosome 1p34.2 that impairs glucose transport across the blood–brain barrier resulting in hypoglycorrhachia and decreased fuel for brain metabolism. Neuroglycopenia causes a drug‐resistant metabolic epilepsy due to energy deficiency. Standard treatment for Glut1 deficiency syndrome is the ketogenic diet that decreases the demand for brain glucose by supplying ketones as alternative fuel. Treatment options are limited if patients fail the ketogenic diet. We present a case of successful diazoxide use with continuous glucose monitoring in a patient with Glut1 deficiency syndrome who did not respond to the ketogenic diet.
format	article
author	Santhi N. Logel Ellen L. Connor David A. Hsu Rachel J. Fenske Neil J. Paloian Darryl C. De Vivo
author_facet	Santhi N. Logel Ellen L. Connor David A. Hsu Rachel J. Fenske Neil J. Paloian Darryl C. De Vivo
author_sort	Santhi N. Logel
title	Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome
title_short	Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome
title_full	Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome
title_fullStr	Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome
title_full_unstemmed	Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome
title_sort	exploring diazoxide and continuous glucose monitoring as treatment for glut1 deficiency syndrome
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/1006b62dddf24bd2aac90a7b32bca90a
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Exploring diazoxide and continuous glucose monitoring as treatment for Glut1 deficiency syndrome

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