GLUT1 deficiency syndrome in adulthood: lost in diagnosis.

ABSTRACT:

Background

Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a rare genetic disorder impairing cerebral glucose transport, leading to variable neurological symptoms in which adult care remains underexplored. This study aims to characterise adult phenotypes, identify unmet needs and inform a person-centred care model.

Methods

32 adults with genetically confirmed GLUT1DS were retrospectively evaluated at two centres in Milan, Italy. Clinical history, diagnostic data, treatment and follow-up information were systematically collected. 19 patients underwent extended assessments including cognitive, neuropsychiatric, sleep, adaptive functioning and quality of life evaluations. Nine also participated in psychological interviews.

Results

The cohort included 68.8% fe

SUBMITTER: Previtali R 

PROVIDER: S-EPMC12815066 | biostudies-literature | 2026

REPOSITORIES: biostudies-literature