Neurology · Neurology / Epilepsy; Metabolic disease
Glucose transporter type 1 deficiency syndrome
also: De Vivo disease; GLUT1DS
Impaired glucose transport across the blood-brain barrier.
- Specialty
- Neurology
- Subspecialty
- Neurology / Epilepsy; Metabolic disease
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, infantile onset
- Gene(s) involved
- SLC2A1
- Alternative names & eponyms
- De Vivo disease; GLUT1DS
Etiology & mechanism
Haploinsufficiency of GLUT1.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Glucose transporter type 1 deficiency syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
2 shared
Angelman syndrome
ataxia, microcephaly
2 shared
Cerebral folate deficiency syndrome
ataxia, microcephaly
2 shared
Cockayne syndrome
developmental delay, microcephaly
2 shared
Dandy–Walker malformation
ataxia, developmental delay
2 shared
Fetal hydantoin syndrome
developmental delay, microcephaly
2 shared
Galloway–Mowat syndrome
developmental delay, microcephaly
2 shared
Hoyeraal–Hreidarsson syndrome
developmental delay, microcephaly
2 shared
Joubert syndrome
ataxia, developmental delay
2 shared
NARP syndrome
ataxia, developmental delay
2 shared
Poretti–Boltshauser syndrome
ataxia, developmental delay
Shares genes with
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