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

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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Bibliographic Details
Main Authors: Aya Amer, Kathryn Murrell, Liza Edmonds, Isaac Bernhardt, Rhonda Akroyd, Bryony Ryder, Callum Wilson, Emma Glamuzina
Format: Article
Language:English
Published: Wiley 2025-01-01
Series:JIMD Reports
Subjects:
cognitive impairment
D,L‐3‐HB
D,L‐3‐hydroxybutyrate
Glut1
glut1ds
ketogenic
Online Access:https://doi.org/10.1002/jmd2.12461
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