D,L‐3‐hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS)

Abstract Background Deficiency of the Glut1 transporter due to mono‐allelic variants in SLC2A1 causes hypoglycorrhachia, resulting in a neurological spectrum from neonatal epilepsy to adult‐onset paroxysmal movement disorders (PMD). The brain utilises ketone bodies as an alternative energy source to...

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Detalhes bibliográficos

Principais autores:	Aya Amer, Kathryn Murrell, Liza Edmonds, Isaac Bernhardt, Rhonda Akroyd, Bryony Ryder, Callum Wilson, Emma Glamuzina
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2025-01-01
coleção:	JIMD Reports
Assuntos:	cognitive impairment D,L‐3‐HB D,L‐3‐hydroxybutyrate Glut1 glut1ds ketogenic
Acesso em linha:	https://doi.org/10.1002/jmd2.12461
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