Gamma-aminobutyric acid transaminase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: GABA transaminase deficiency
Number of Symptoms 24
OrphanetNr: 2066
OMIM Id: 613163
ICD-10: E72.8
UMLs: C0342708
MeSH: C535407
MedDRA:
Snomed: 237941007

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of beta and omega amino acid metabolism
 -Rare genetic disease
Disorder of gamma-aminobutyric acid metabolism
 -Rare genetic disease
Metabolic neurotransmission anomaly with epilepsy
 -Rare neurologic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
2
 (HPO:0007291) Posterior fossa cyst 10 / 7739
3
 (HPO:0000278) Retrognathia 100 / 7739
4
 (HPO:0001250) Seizures 1245 / 7739
5
 (HPO:0001347) Hyperreflexia 363 / 7739
6
 (HPO:0001263) Global developmental delay 853 / 7739
7
 (HPO:0001254) Lethargy 104 / 7739
8
 (HPO:0000098) Tall stature 74 / 7739
9
 (HPO:0006829) Severe muscular hypotonia 29 / 7739
10
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
 (OMIM) Increased beta-alanine (in 1 of 2 patients) 1 / 7739
12
 (OMIM) Early death 13 / 7739
13
 (OMIM) High pitched cry 5 / 7739
14
 (OMIM) Abnormal gyri 3 / 7739
15
 (OMIM) Refractory seizures 15 / 7739
16
 (OMIM) Increased gamma-aminobutyric acid in plasma, urine, and cerebrospinal fluid (CSF) 1 / 7739
17
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
18
 (OMIM) Decreased hepatic GABA transaminase activity 1 / 7739
19
 (HPO:0003819) Death in childhood 42 / 7739
20
 (OMIM) Retrognathia, mild 3 / 7739
21
 (OMIM) Increased growth hormone (in 1 of 2 patients) 1 / 7739
22
 (OMIM) Tonic posturing 1 / 7739
23
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
24
 (HPO:0002415) Leukodystrophy 30 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Jaeken et al. (1984) reported 2 sibs, born of consanguineous Flemish parents, who presented with severe hypotonia, psychomotor retardation, and hyperreflexia. The proband had accelerated linear growth associated with increased growth hormone. Cerebrospinal fluid showed high levels of ...
Molecular genetics OMIM In 2 unrelated patients with GABA-aminotransferase deficiency, Medina-Kauwe et al. (1999) identified mutations in the ABAT gene (137150.0001 and 137150.0002).