GLUT1 deficiency syndrome

Findings

No curated finding names GLUT1 deficiency syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• carbohydrate transport disease
• hereditary neurological disease
• inborn carbohydrate metabolic disorder
• metabolic epilepsy

Narrower terms (2)

• childhood onset GLUT1 deficiency syndrome 2
• encephalopathy due to GLUT1 deficiency

Resolves to: GLUT1 deficiency syndrome

Also called

GLUT1DS