encephalopathy due to GLUT1 deficiency
Findings
No curated finding names encephalopathy due to GLUT1 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.
Definition from the Mondo Disease Ontology (MONDO:0011724), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
43 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- DyskinesiaHPOHP:0100660
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Gait ataxiaHPOHP:0002066
- 1 of 1 reported patient
- HypoglycorrhachiaHPOHP:0011972
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
Genes
1 gene
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.
- SLC2A1HGNC:11005
- Definitive · G2P · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
7 names
Resolves to: encephalopathy due to GLUT1 deficiency
- Also called
- De Vivo diseaseglucose transporter type 1 deficiencyGlucose Transporter Type 1 Deficiency Syndromeglut-1 deficiency syndromeGLUT1 deficiency syndrome 1, infantile onset, severeGLUT1 deficiency syndrome type 1GLUT1-DS