Diagnosis and treatment recommendations for glucose transporter 1 deficiency syndrome.

ABSTRACT:

Background

Glucose transporter 1 deficiency syndrome (Glut1DS) was initially reported by De Vivo and colleagues in 1991. This disease arises from mutations in the SLC2A1 and presents with a broad clinical spectrum. It is a treatable neuro-metabolic condition, where prompt diagnosis and initiation of ketogenic dietary therapy can markedly enhance the prognosis. However, due to its rarity, Glut1DS is susceptible to misdiagnosis or missed diagnosis, which can lead to delayed treatment and irreversible dysfunction of the central nervous system. To promote diagnostic awareness and effective treatments, the recommendations for diagnosis and treatment have been developed.

Methods

The panel on Glut1DS included 28 participants from the members of the Ketogenic Diet Professional Commi

SUBMITTER: Zhang MJ 

PROVIDER: S-EPMC11885374 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature