MCID: GBT001
MIFTS: 33

Gaba-Transaminase Deficiency

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Gaba-Transaminase Deficiency

MalaCards integrated aliases for Gaba-Transaminase Deficiency:

Name: Gaba-Transaminase Deficiency 57 25 37 13
Gaba Transaminase Deficiency 25 59 75
Gamma-Aminobutyric Acid Transaminase Deficiency 25 59
Gamma Aminobutyric Acid Transaminase Deficiency 25 73
4 Alpha Aminobutyrate Transaminase Deficiency 25
Gamma Aminobutyrate Transaminase Deficiency 25
Gamma-Aminobutyrate Transaminase Deficiency 25
Gaba Transferase Deficiency 25
Gaba-T Deficiency 25
Abat Deficiency 25
Gabatd 75

Characteristics:

Orphanet epidemiological data:

59
gamma-aminobutyric acid transaminase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
early death
two probands have been reported


HPO:

32
gaba-transaminase deficiency:
Mortality/Aging death in childhood
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613163
Orphanet 59 ORPHA2066
MESH via Orphanet 45 C535407
UMLS via Orphanet 74 C0342708
ICD10 via Orphanet 34 E72.8
MedGen 42 C0342708
MeSH 44 D000592
KEGG 37 H01257
UMLS 73 C0342708

Summaries for Gaba-Transaminase Deficiency

Genetics Home Reference : 25 GABA-transaminase deficiency is a brain disease (encephalopathy) that begins in infancy. Babies with this disorder have recurrent seizures (epilepsy), uncontrolled limb movements (choreoathetosis), exaggerated reflexes (hyperreflexia), weak muscle tone (hypotonia), and excessive sleepiness (hypersomnolence). Affected babies may grow faster in length than usual (accelerated linear growth), even though they have feeding problems and may not gain weight as quickly as expected (failure to thrive).

MalaCards based summary : Gaba-Transaminase Deficiency, also known as gaba transaminase deficiency, is related to gaba aminotransferase deficiency and gamma-amino butyric acid metabolism disorder, and has symptoms including lethargy An important gene associated with Gaba-Transaminase Deficiency is ABAT (4-Aminobutyrate Aminotransferase), and among its related pathways/superpathways are Alanine, aspartate and glutamate metabolism and Transmission across Chemical Synapses. Affiliated tissues include brain, and related phenotypes are agenesis of corpus callosum and seizures

OMIM : 57 GABA-transaminase deficiency is characterized by neonatal or early infantile-onset encephalopathy, hypotonia, hypersomnolence, epilepsy, choreoathetosis, and accelerated linear growth. Electroencephalograms show burst-suppression, modified hypsarrhythmia, multifocal spikes, and generalized spike-wave. Severity varies, but most patients have profound developmental impairment and some patients die in infancy (summary by Koenig et al., 2017). (613163)

UniProtKB/Swiss-Prot : 75 GABA transaminase deficiency: An enzymatic deficiency resulting in psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities.

Related Diseases for Gaba-Transaminase Deficiency

Diseases related to Gaba-Transaminase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 gaba aminotransferase deficiency 11.3
2 gamma-amino butyric acid metabolism disorder 9.3 ABAT ALDH5A1
3 succinic semialdehyde dehydrogenase deficiency 9.2 ABAT ALDH5A1
4 epilepsy, idiopathic generalized 9.0 ABAT ALDH5A1

Symptoms & Phenotypes for Gaba-Transaminase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hyperreflexia
lethargy
seizures, refractory
psychomotor retardation, severe
tonic posturing
more
Voice:
high-pitched cry

Head And Neck Face:
retrognathia, mild (in 1 of 2 patients)

Laboratory Abnormalities:
increased gamma-aminobutyric acid in plasma, urine, and cerebrospinal fluid (csf)
increased beta-alanine (in 1 of 2 patients)
increased growth hormone (in 1 of 2 patients)
decreased hepatic gaba transaminase activity

Muscle Soft Tissue:
hypotonia, severe

Growth Height:
accelerated linear growth (in 1 of 2 patients)

Head And Neck Eyes:
downslanting palpebral fissures (in 1 of 2 patients)


Clinical features from OMIM:

613163

Human phenotypes related to Gaba-Transaminase Deficiency:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 32 HP:0001274
2 seizures 32 HP:0001250
3 hyperreflexia 32 HP:0001347
4 global developmental delay 32 HP:0001263
5 retrognathia 32 HP:0000278
6 cerebellar hypoplasia 32 HP:0001321
7 downslanted palpebral fissures 32 HP:0000494
8 lethargy 32 HP:0001254
9 tall stature 32 HP:0000098
10 leukodystrophy 32 HP:0002415
11 severe muscular hypotonia 32 HP:0006829
12 posterior fossa cyst 32 HP:0007291
13 high-pitched cry 32 HP:0025430

UMLS symptoms related to Gaba-Transaminase Deficiency:


lethargy

Drugs & Therapeutics for Gaba-Transaminase Deficiency

Search Clinical Trials , NIH Clinical Center for Gaba-Transaminase Deficiency

Genetic Tests for Gaba-Transaminase Deficiency

Anatomical Context for Gaba-Transaminase Deficiency

MalaCards organs/tissues related to Gaba-Transaminase Deficiency:

41
Brain

Publications for Gaba-Transaminase Deficiency

Articles related to Gaba-Transaminase Deficiency:

# Title Authors Year
1
Serial Magnetic Resonance Imaging and <sup>1</sup>H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report. ( 29478219 )
2018
2
Phenotype of GABA-transaminase deficiency. ( 28411234 )
2017
3
Phenotyping GABA transaminase deficiency: a case description and literature review. ( 27376954 )
2016
4
Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies. ( 25485164 )
2014
5
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. ( 20052547 )
2010
6
4-aminobutyrate aminotransferase (GABA-transaminase) deficiency. ( 10407778 )
1999
7
Identification of a familial mutation associated with GABA-transaminase deficiency disease. ( 9746906 )
1998

Variations for Gaba-Transaminase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Gaba-Transaminase Deficiency:

75
# Symbol AA change Variation ID SNP ID
1 ABAT p.Arg220Lys VAR_008883 rs121434578

ClinVar genetic disease variations for Gaba-Transaminase Deficiency:

6
(show top 50) (show all 273)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABAT NM_000663.4(ABAT): c.659G> A (p.Arg220Lys) single nucleotide variant Pathogenic rs121434578 GRCh37 Chromosome 16, 8862105: 8862105
2 ABAT NM_000663.4(ABAT): c.659G> A (p.Arg220Lys) single nucleotide variant Pathogenic rs121434578 GRCh38 Chromosome 16, 8768248: 8768248
3 ABAT ABAT, 3-PRIME DELETION deletion Pathogenic
4 ABAT NM_000663.4(ABAT): c.275G> A (p.Arg92Gln) single nucleotide variant Pathogenic rs724159992 GRCh38 Chromosome 16, 8750498: 8750498
5 ABAT NM_000663.4(ABAT): c.275G> A (p.Arg92Gln) single nucleotide variant Pathogenic rs724159992 GRCh37 Chromosome 16, 8844355: 8844355
6 ABAT NM_000663.4(ABAT): c.631C> T (p.Leu211Phe) single nucleotide variant Pathogenic rs724159990 GRCh38 Chromosome 16, 8768220: 8768220
7 ABAT NM_000663.4(ABAT): c.631C> T (p.Leu211Phe) single nucleotide variant Pathogenic rs724159990 GRCh37 Chromosome 16, 8862077: 8862077
8 ABAT NM_000663.4(ABAT): c.1433T> C (p.Leu478Pro) single nucleotide variant Pathogenic rs724159991 GRCh38 Chromosome 16, 8781360: 8781360
9 ABAT NM_000663.4(ABAT): c.1433T> C (p.Leu478Pro) single nucleotide variant Pathogenic rs724159991 GRCh37 Chromosome 16, 8875217: 8875217
10 ABAT NM_000663.4(ABAT): c.199-?_316+?del deletion Pathogenic
11 ABAT NM_020686.5(ABAT): c.684G> A (p.Thr228=) single nucleotide variant Benign rs148143485 GRCh37 Chromosome 16, 8862698: 8862698
12 ABAT NM_020686.5(ABAT): c.684G> A (p.Thr228=) single nucleotide variant Benign rs148143485 GRCh38 Chromosome 16, 8768841: 8768841
13 ABAT NM_020686.5(ABAT): c.816+7C> A single nucleotide variant Benign/Likely benign rs376046736 GRCh37 Chromosome 16, 8862837: 8862837
14 ABAT NM_020686.5(ABAT): c.816+7C> A single nucleotide variant Benign/Likely benign rs376046736 GRCh38 Chromosome 16, 8768980: 8768980
15 ABAT NM_020686.5(ABAT): c.603+3G> A single nucleotide variant Conflicting interpretations of pathogenicity rs41312254 GRCh37 Chromosome 16, 8860130: 8860130
16 ABAT NM_020686.5(ABAT): c.603+3G> A single nucleotide variant Conflicting interpretations of pathogenicity rs41312254 GRCh38 Chromosome 16, 8766273: 8766273
17 ABAT NM_020686.5(ABAT): c.55C> T (p.Arg19Cys) single nucleotide variant Benign/Likely benign rs77696190 GRCh37 Chromosome 16, 8829651: 8829651
18 ABAT NM_020686.5(ABAT): c.55C> T (p.Arg19Cys) single nucleotide variant Benign/Likely benign rs77696190 GRCh38 Chromosome 16, 8735794: 8735794
19 ABAT NM_020686.5(ABAT): c.446C> T (p.Ser149Leu) single nucleotide variant Uncertain significance rs374113959 GRCh37 Chromosome 16, 8858005: 8858005
20 ABAT NM_020686.5(ABAT): c.446C> T (p.Ser149Leu) single nucleotide variant Uncertain significance rs374113959 GRCh38 Chromosome 16, 8764148: 8764148
21 ABAT NM_020686.5(ABAT): c.30G> A (p.Leu10=) single nucleotide variant Conflicting interpretations of pathogenicity rs34813662 GRCh37 Chromosome 16, 8829626: 8829626
22 ABAT NM_020686.5(ABAT): c.30G> A (p.Leu10=) single nucleotide variant Conflicting interpretations of pathogenicity rs34813662 GRCh38 Chromosome 16, 8735769: 8735769
23 ABAT NM_020686.5(ABAT): c.641T> C (p.Met214Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149271402 GRCh37 Chromosome 16, 8862087: 8862087
24 ABAT NM_020686.5(ABAT): c.641T> C (p.Met214Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs149271402 GRCh38 Chromosome 16, 8768230: 8768230
25 ABAT NM_020686.5(ABAT): c.-52G> T single nucleotide variant Uncertain significance rs532269694 GRCh38 Chromosome 16, 8674701: 8674701
26 ABAT NM_020686.5(ABAT): c.-52G> T single nucleotide variant Uncertain significance rs532269694 GRCh37 Chromosome 16, 8768558: 8768558
27 ABAT NM_020686.5(ABAT): c.129G> A (p.Gly43=) single nucleotide variant Benign/Likely benign rs2228081 GRCh38 Chromosome 16, 8746059: 8746059
28 ABAT NM_020686.5(ABAT): c.129G> A (p.Gly43=) single nucleotide variant Benign/Likely benign rs2228081 GRCh37 Chromosome 16, 8839916: 8839916
29 ABAT NM_020686.5(ABAT): c.168+12A> G single nucleotide variant Likely benign rs75151311 GRCh38 Chromosome 16, 8746110: 8746110
30 ABAT NM_020686.5(ABAT): c.168+12A> G single nucleotide variant Likely benign rs75151311 GRCh37 Chromosome 16, 8839967: 8839967
31 ABAT NM_020686.5(ABAT): c.540+34_540+35dupCA duplication Benign rs35745596 GRCh37 Chromosome 16, 8858721: 8858722
32 ABAT NM_020686.5(ABAT): c.540+34_540+35dupCA duplication Benign rs35745596 GRCh38 Chromosome 16, 8764864: 8764865
33 ABAT NM_020686.5(ABAT): c.667+7_667+8dupAG duplication Uncertain significance rs886052430 GRCh38 Chromosome 16, 8768263: 8768264
34 ABAT NM_020686.5(ABAT): c.667+7_667+8dupAG duplication Uncertain significance rs886052430 GRCh37 Chromosome 16, 8862120: 8862121
35 ABAT NM_020686.5(ABAT): c.984C> A (p.Val328=) single nucleotide variant Benign rs1641022 GRCh38 Chromosome 16, 8774919: 8774919
36 ABAT NM_020686.5(ABAT): c.984C> A (p.Val328=) single nucleotide variant Benign rs1641022 GRCh37 Chromosome 16, 8868776: 8868776
37 ABAT NM_020686.5(ABAT): c.1270G> A (p.Ala424Thr) single nucleotide variant Uncertain significance rs886052432 GRCh38 Chromosome 16, 8779479: 8779479
38 ABAT NM_020686.5(ABAT): c.1270G> A (p.Ala424Thr) single nucleotide variant Uncertain significance rs886052432 GRCh37 Chromosome 16, 8873336: 8873336
39 ABAT NM_020686.5(ABAT): c.*244C> A single nucleotide variant Likely benign rs2270289 GRCh38 Chromosome 16, 8781674: 8781674
40 ABAT NM_020686.5(ABAT): c.*244C> A single nucleotide variant Likely benign rs2270289 GRCh37 Chromosome 16, 8875531: 8875531
41 ABAT NM_020686.5(ABAT): c.*318T> C single nucleotide variant Likely benign rs78352097 GRCh38 Chromosome 16, 8781748: 8781748
42 ABAT NM_020686.5(ABAT): c.*318T> C single nucleotide variant Likely benign rs78352097 GRCh37 Chromosome 16, 8875605: 8875605
43 ABAT NM_020686.5(ABAT): c.*476T> C single nucleotide variant Benign rs1731071 GRCh38 Chromosome 16, 8781906: 8781906
44 ABAT NM_020686.5(ABAT): c.*476T> C single nucleotide variant Benign rs1731071 GRCh37 Chromosome 16, 8875763: 8875763
45 ABAT NM_020686.5(ABAT): c.*915C> G single nucleotide variant Benign rs3743801 GRCh38 Chromosome 16, 8782345: 8782345
46 ABAT NM_020686.5(ABAT): c.*915C> G single nucleotide variant Benign rs3743801 GRCh37 Chromosome 16, 8876202: 8876202
47 ABAT NM_020686.5(ABAT): c.*990G> C single nucleotide variant Benign rs4985000 GRCh38 Chromosome 16, 8782420: 8782420
48 ABAT NM_020686.5(ABAT): c.*990G> C single nucleotide variant Benign rs4985000 GRCh37 Chromosome 16, 8876277: 8876277
49 ABAT NM_020686.5(ABAT): c.*1333A> G single nucleotide variant Likely benign rs17566580 GRCh37 Chromosome 16, 8876620: 8876620
50 ABAT NM_020686.5(ABAT): c.*1333A> G single nucleotide variant Likely benign rs17566580 GRCh38 Chromosome 16, 8782763: 8782763

Expression for Gaba-Transaminase Deficiency

Search GEO for disease gene expression data for Gaba-Transaminase Deficiency.

Pathways for Gaba-Transaminase Deficiency

Pathways related to Gaba-Transaminase Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Alanine, aspartate and glutamate metabolism hsa00250

GO Terms for Gaba-Transaminase Deficiency

Cellular components related to Gaba-Transaminase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 8.62 ABAT ALDH5A1

Biological processes related to Gaba-Transaminase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neurotransmitter catabolic process GO:0042135 9.16 ABAT ALDH5A1
2 gamma-aminobutyric acid metabolic process GO:0009448 8.96 ABAT ALDH5A1
3 gamma-aminobutyric acid catabolic process GO:0009450 8.62 ABAT ALDH5A1

Molecular functions related to Gaba-Transaminase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 8.62 ABAT ALDH5A1

Sources for Gaba-Transaminase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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