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...
Saved in:
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2025-01-01
|
| Series: | JIMD Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/jmd2.12461 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|