Encephalopathy due to GLUT1 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE, INCLUDED
GLUT1DS1
Glut-1 deficiency Syndrome
Glucose transporter type 1 deficiency
Glut1-DS
De Vivo disease
Number of Symptoms 37
OrphanetNr: 71277
OMIM Id: 606777
ICD-10: G93.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 84 cases [Orphanet]
Inheritance: Autosomal recessive
Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT
Glucose transport disorder
 -Rare genetic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease
Other metabolic disease with epilepsy
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0005484) Postnatal microcephaly 32 / 7739
2
 (HPO:0007704) Paroxysmal involuntary eye movements 1 / 7739
3
 (HPO:0001263) Global developmental delay 853 / 7739
4
 (HPO:0001347) Hyperreflexia 363 / 7739
5
 (HPO:0002353) EEG abnormality 188 / 7739
6
 (HPO:0001257) Spasticity 251 / 7739
7
 (HPO:0001260) Dysarthria 329 / 7739
8
 (HPO:0000750) Delayed speech and language development 197 / 7739
9
 (HPO:0001336) Myoclonus 115 / 7739
10
 (HPO:0001266) Choreoathetosis 57 / 7739
11
 (HPO:0001251) Ataxia 413 / 7739
12
 (HPO:0002360) Sleep disturbance 113 / 7739
13
 (HPO:0001328) Specific learning disability 114 / 7739
14
 (HPO:0011973) Paroxysmal lethargy 1 / 7739
15
 (HPO:0003487) Babinski sign 179 / 7739
16
 (HPO:0001289) Confusion 36 / 7739
17
 (HPO:0002268) Paroxysmal dystonia 11 / 7739
18
 (HPO:0011972) Hypoglycorrhachia 2 / 7739
19
 (HPO:0001269) Hemiparesis 51 / 7739
20
 (HPO:0003470) Paralysis 11 / 7739
21
 (HPO:0001249) Intellectual disability 1089 / 7739
22
 (HPO:0001250) Seizures common [HPO:skoehler] 1245 / 7739
23
 (HPO:0001276) Hypertonia 317 / 7739
24
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
25
 (HPO:0000007) Autosomal recessive inheritance rare [HPO:skoehler] 2538 / 7739
26
 (OMIM) Hemiparesis, paroxysmal 1 / 7739
27
 (OMIM) Total body paralysis, paroxysmal 1 / 7739
28
 (OMIM) Confusion, paroxysmal 1 / 7739
29
 (OMIM) Reduced erythrocyte glucose/hexose transport 1 / 7739
30
 (OMIM) Seizures, generalized tonic/clonic, myoclonic, atonic, or atypical absence, aggravated by fatigue and fasting with frequency ranges from daily to monthly (in some patients) 1 / 7739
31
 (OMIM) Low-to-normal CSF lactate 2 / 7739
32
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
33
 (OMIM) Myoclonus, paroxysmal 1 / 7739
34
 (OMIM) Myoclonic astatic epilepsy 1 / 7739
35
 (OMIM) Infantile seizures 2 / 7739
36
 (HPO:0003593) Infantile onset 249 / 7739
37
 (HPO:0003812) Phenotypic variability 129 / 7739

Associated genes:

SLC2A1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) GLUT1 deficiency syndrome-1 is a neurologic disorder showing wide phenotypic variability. The most severe 'classic' phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity. Onset of seizures, usually characterized by apneic episodes, staring ...
Diagnosis OMIM Yang et al. (2011) performed an erythrocyte glucose uptake assay in 109 patients with suspected GLUT1 deficiency. There were 2 groups of patients: 74 had decreased glucose uptake (mean of about 55% compared to controls) and 35 had normal ...
Clinical Description OMIM De Vivo et al. (1991) described 2 patients with infantile seizures, delayed development, and acquired microcephaly who had normal circulating blood sugar, low to normal cerebrospinal fluid lactate, but persistent hypoglycorrhachia and diminished transport of hexose into isolated red ...
Molecular genetics OMIM Seidner et al. (1998) demonstrated 2 classes of mutations as the molecular basis for the functional defect of glucose transport: hemizygosity of GLUT1 (138140.0001) and heterozygous nonsense mutations resulting in truncation of the GLUT1 protein (e.g., 138140.0002).

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