GABATD
MCID: GBT001
MIFTS: 37

Gaba-Transaminase Deficiency (GABATD)

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

Aliases & Classifications for Gaba-Transaminase Deficiency

MalaCards integrated aliases for Gaba-Transaminase Deficiency:

Name: Gaba-Transaminase Deficiency 57 43 36 13
Gaba Transaminase Deficiency 43 58 72
Gamma-Aminobutyric Acid Transaminase Deficiency 43 58
Gamma Aminobutyric Acid Transaminase Deficiency 43 70
4 Alpha Aminobutyrate Transaminase Deficiency 43
Gamma Aminobutyrate Transaminase Deficiency 43
Gamma-Aminobutyrate Transaminase Deficiency 43
Gaba Transferase Deficiency 43
Gaba-T Deficiency 43
Abat Deficiency 43
Gabatd 72

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
early death
two probands have been reported


HPO:

31
gaba-transaminase deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course death in childhood


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

OMIM® 57 613163
KEGG 36 H01257
MeSH 44 D000592
MESH via Orphanet 45 C535407
ICD10 via Orphanet 33 E72.8
UMLS via Orphanet 71 C0342708
Orphanet 58 ORPHA2066
MedGen 41 C0342708
UMLS 70 C0342708

Summaries for Gaba-Transaminase Deficiency

MedlinePlus Genetics : 43 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).Children with GABA-transaminase deficiency have profoundly impaired development. Most do not achieve normal developmental milestones of infancy such as following others' movement with their eyes or sitting unassisted. Individuals with this disorder usually do not survive past the first 2 years of life, but some live longer into childhood.

MalaCards based summary : Gaba-Transaminase Deficiency, also known as gaba transaminase deficiency, is related to succinic semialdehyde dehydrogenase deficiency and gaba aminotransferase deficiency, 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. Related phenotypes are agenesis of corpus callosum and hyperreflexia

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) (Updated 20-May-2021)

KEGG : 36 GABA-transaminase deficiency is a very rare inborn error of GABA degradation. The phenotype of this deficiency includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and electroencephalographic abnormalities.

UniProtKB/Swiss-Prot : 72 GABA transaminase deficiency: An enzymatic deficiency resulting in psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities.

Related Diseases for Gaba-Transaminase Deficiency

Graphical network of the top 20 diseases related to Gaba-Transaminase Deficiency:



Diseases related to Gaba-Transaminase Deficiency

Symptoms & Phenotypes for Gaba-Transaminase Deficiency

Human phenotypes related to Gaba-Transaminase Deficiency:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 31 HP:0001274
2 hyperreflexia 31 HP:0001347
3 global developmental delay 31 HP:0001263
4 retrognathia 31 HP:0000278
5 downslanted palpebral fissures 31 HP:0000494
6 tall stature 31 HP:0000098
7 severe muscular hypotonia 31 HP:0006829
8 cerebellar hypoplasia 31 HP:0001321
9 lethargy 31 HP:0001254
10 leukodystrophy 31 HP:0002415
11 psychomotor retardation 31 HP:0025356
12 high-pitched cry 31 HP:0025430
13 posterior fossa cyst 31 HP:0007291
14 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hyperreflexia
lethargy
seizures, refractory
psychomotor retardation, severe
tonic posturing
more
Muscle Soft Tissue:
hypotonia, severe

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

Voice:
high-pitched cry

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 (Updated 20-May-2021)

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

Publications for Gaba-Transaminase Deficiency

Articles related to Gaba-Transaminase Deficiency:

(show all 26)
# Title Authors PMID Year
1
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 57 61 6
20052547 2010
2
4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency. 61 57 6
10407778 1999
3
Hypersomnolence-hyperkinetic movement disorder in a child with compound heterozygous mutation in 4-aminobutyrate aminotransferase (ABAT) gene. 6 57
27596361 2017
4
Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism. 6 57
6148708 1984
5
2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. 6 61
31133775 2019
6
Phenotype of GABA-transaminase deficiency. 57 61
28411234 2017
7
Personalized medicine approach confirms a milder case of ABAT deficiency. 6
27903293 2016
8
The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism. 6
25738457 2015
9
Inborn errors of GABA metabolism. 57
3790108 1986
10
Demonstration of 4-aminobutyric acid aminotransferase deficiency in lymphocytes and lymphoblasts. 57
3939544 1985
11
GABA transaminase deficiency. Case report and literature review. 61
33768830 2021
12
GABA Transaminase Deficiency With Survival Into Adulthood. 61
30644311 2019
13
Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment. 61
29480352 2019
14
Serial Magnetic Resonance Imaging and 1H-Magnetic Resonance Spectroscopy in GABA Transaminase Deficiency: A Case Report. 61
29478219 2019
15
Paroxysmal dyskinesias with drowsiness and thalamic lesions in GABA transaminase deficiency. 61
30617166 2019
16
Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. 61
32082103 2019
17
Phenotyping GABA transaminase deficiency: a case description and literature review. 61
27376954 2016
18
Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies. 61
25485164 2014
19
The pediatric neurotransmitter disorders. 61
17690069 2007
20
Inherited disorders of GABA metabolism. 61
23842532 2006
21
Clinical aspects of the disorders of GABA metabolism in children. 61
15021235 2004
22
Pediatric neurotransmitter diseases. 61
14984687 2004
23
Identification of a familial mutation associated with GABA-transaminase deficiency disease. 61
9746906 1998
24
Cerebrospinal fluid as a tool in the diagnosis of neurometabolic diseases: amino acid analysis before and after acid hydrolysis. 61
7957393 1994
25
Inherited disorders of GABA metabolism. 61
8412016 1993
26
Review: Normal and abnormal central nervous system GABA metabolism in childhood. 61
2079831 1990

Variations for Gaba-Transaminase Deficiency

ClinVar genetic disease variations for Gaba-Transaminase Deficiency:

6 (show top 50) (show all 274)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ABAT NM_020686.6(ABAT):c.1394G>A (p.Gly465Asp) SNV Pathogenic 389161 rs1057523345 GRCh37: 16:8875178-8875178
GRCh38: 16:8781321-8781321
2 ABAT NM_020686.6(ABAT):c.817-2A>G SNV Pathogenic 438386 rs1555492932 GRCh37: 16:8866635-8866635
GRCh38: 16:8772778-8772778
3 ABAT NM_020686.6(ABAT):c.1460T>C (p.Leu487Pro) SNV Pathogenic 438387 rs1555494322 GRCh37: 16:8875244-8875244
GRCh38: 16:8781387-8781387
4 ABAT NM_000663.3(ABAT):c.199-?_316+?del Deletion Pathogenic 438385 GRCh37:
GRCh38:
5 ABAT NM_020686.6(ABAT):c.638T>G (p.Phe213Cys) SNV Pathogenic 635255 rs1567312671 GRCh37: 16:8862084-8862084
GRCh38: 16:8768227-8768227
6 ABAT NM_020686.6(ABAT):c.1393G>C (p.Gly465Arg) SNV Pathogenic 635254 rs781555217 GRCh37: 16:8875177-8875177
GRCh38: 16:8781320-8781320
7 ABAT NM_020686.6(ABAT):c.454C>T (p.Pro152Ser) SNV Pathogenic 635253 rs1567310537 GRCh37: 16:8858601-8858601
GRCh38: 16:8764744-8764744
8 ABAT NM_020686.6(ABAT):c.168+1G>A SNV Pathogenic 635252 rs1567300736 GRCh37: 16:8839956-8839956
GRCh38: 16:8746099-8746099
9 ABAT NM_000663.4(ABAT):c.199-?_316+?del Deletion Pathogenic 162037 GRCh37:
GRCh38:
10 ABAT NM_020686.6(ABAT):c.275G>A (p.Arg92Gln) SNV Pathogenic 162036 rs724159992 GRCh37: 16:8844355-8844355
GRCh38: 16:8750498-8750498
11 ABAT NM_020686.6(ABAT):c.1433T>C (p.Leu478Pro) SNV Pathogenic 162035 rs724159991 GRCh37: 16:8875217-8875217
GRCh38: 16:8781360-8781360
12 ABAT NM_020686.6(ABAT):c.631C>T (p.Leu211Phe) SNV Pathogenic 162034 rs724159990 GRCh37: 16:8862077-8862077
GRCh38: 16:8768220-8768220
13 ABAT ABAT, 3-PRIME DELETION Deletion Pathogenic 16217 GRCh37:
GRCh38:
14 ABAT NM_020686.6(ABAT):c.659G>A (p.Arg220Lys) SNV Pathogenic 16216 rs121434578 GRCh37: 16:8862105-8862105
GRCh38: 16:8768248-8768248
15 ABAT NM_020686.6(ABAT):c.864C>T (p.Ala288=) SNV Conflicting interpretations of pathogenicity 321080 rs149855547 GRCh37: 16:8866684-8866684
GRCh38: 16:8772827-8772827
16 ABAT NM_020686.6(ABAT):c.667+7_667+8dup Duplication Conflicting interpretations of pathogenicity 321078 rs748783252 GRCh37: 16:8862118-8862119
GRCh38: 16:8768261-8768262
17 ABAT NM_020686.6(ABAT):c.26G>A (p.Arg9His) SNV Conflicting interpretations of pathogenicity 320839 rs531783337 GRCh37: 16:8829622-8829622
GRCh38: 16:8735765-8735765
18 ABAT NM_020686.6(ABAT):c.645C>A (p.Gly215=) SNV Conflicting interpretations of pathogenicity 321077 rs1139522 GRCh37: 16:8862091-8862091
GRCh38: 16:8768234-8768234
19 ABAT NM_020686.6(ABAT):c.978C>T (p.Asp326=) SNV Conflicting interpretations of pathogenicity 460331 rs201727625 GRCh37: 16:8868770-8868770
GRCh38: 16:8774913-8774913
20 ABAT NM_020686.6(ABAT):c.55C>T (p.Arg19Cys) SNV Conflicting interpretations of pathogenicity 235649 rs77696190 GRCh37: 16:8829651-8829651
GRCh38: 16:8735794-8735794
21 ABAT NM_020686.6(ABAT):c.*2712T>C SNV Uncertain significance 885603 GRCh37: 16:8877999-8877999
GRCh38: 16:8784142-8784142
22 ABAT NM_020686.6(ABAT):c.*2698C>G SNV Uncertain significance 885602 GRCh37: 16:8877985-8877985
GRCh38: 16:8784128-8784128
23 ABAT NC_000016.10:g.(?_8764059)_(8781430_?)dup Duplication Uncertain significance 832337 GRCh37: 16:8857916-8875287
GRCh38:
24 overlap with 7 genes NC_000016.10:g.(?_8735720)_(10180431_?)dup Duplication Uncertain significance 831382 GRCh37: 16:8829577-10274288
GRCh38:
25 ABAT NM_020686.6(ABAT):c.*1771C>G SNV Uncertain significance 885533 GRCh37: 16:8877058-8877058
GRCh38: 16:8783201-8783201
26 ABAT NM_020686.6(ABAT):c.*1698C>G SNV Uncertain significance 885532 GRCh37: 16:8876985-8876985
GRCh38: 16:8783128-8783128
27 ABAT NM_020686.6(ABAT):c.*1602G>A SNV Uncertain significance 885531 GRCh37: 16:8876889-8876889
GRCh38: 16:8783032-8783032
28 ABAT NM_020686.6(ABAT):c.*1593T>C SNV Uncertain significance 885530 GRCh37: 16:8876880-8876880
GRCh38: 16:8783023-8783023
29 ABAT NM_020686.6(ABAT):c.168+13C>T SNV Uncertain significance 885529 GRCh37: 16:8839968-8839968
GRCh38: 16:8746111-8746111
30 ABAT NM_020686.6(ABAT):c.*717G>A SNV Uncertain significance 885470 GRCh37: 16:8876004-8876004
GRCh38: 16:8782147-8782147
31 ABAT NM_020686.6(ABAT):c.*578G>A SNV Uncertain significance 885469 GRCh37: 16:8875865-8875865
GRCh38: 16:8782008-8782008
32 ABAT NM_020686.6(ABAT):c.1140C>T (p.Asn380=) SNV Uncertain significance 885407 GRCh37: 16:8870218-8870218
GRCh38: 16:8776361-8776361
33 ABAT NM_020686.6(ABAT):c.1123-14G>A SNV Uncertain significance 885406 GRCh37: 16:8870187-8870187
GRCh38: 16:8776330-8776330
34 ABAT NM_020686.6(ABAT):c.*2308A>G SNV Uncertain significance 884660 GRCh37: 16:8877595-8877595
GRCh38: 16:8783738-8783738
35 ABAT NM_020686.6(ABAT):c.*2284A>C SNV Uncertain significance 884659 GRCh37: 16:8877571-8877571
GRCh38: 16:8783714-8783714
36 ABAT NM_020686.6(ABAT):c.*2193T>G SNV Uncertain significance 884658 GRCh37: 16:8877480-8877480
GRCh38: 16:8783623-8783623
37 ABAT NM_020686.6(ABAT):c.*1393C>T SNV Uncertain significance 884598 GRCh37: 16:8876680-8876680
GRCh38: 16:8782823-8782823
38 ABAT NM_020686.6(ABAT):c.-127C>G SNV Uncertain significance 884597 GRCh37: 16:8768483-8768483
GRCh38: 16:8674626-8674626
39 ABAT NM_020686.6(ABAT):c.*435G>A SNV Uncertain significance 884534 GRCh37: 16:8875722-8875722
GRCh38: 16:8781865-8781865
40 ABAT NM_020686.6(ABAT):c.*426C>T SNV Uncertain significance 884533 GRCh37: 16:8875713-8875713
GRCh38: 16:8781856-8781856
41 ABAT NM_020686.6(ABAT):c.*416C>T SNV Uncertain significance 884532 GRCh37: 16:8875703-8875703
GRCh38: 16:8781846-8781846
42 ABAT NM_020686.6(ABAT):c.*316A>C SNV Uncertain significance 884531 GRCh37: 16:8875603-8875603
GRCh38: 16:8781746-8781746
43 ABAT NM_020686.6(ABAT):c.916G>A (p.Asp306Asn) SNV Uncertain significance 884469 GRCh37: 16:8866736-8866736
GRCh38: 16:8772879-8772879
44 ABAT NM_020686.6(ABAT):c.830T>C (p.Ile277Thr) SNV Uncertain significance 884468 GRCh37: 16:8866650-8866650
GRCh38: 16:8772793-8772793
45 ABAT NM_020686.6(ABAT):c.749G>A (p.Arg250Gln) SNV Uncertain significance 460330 rs375002262 GRCh37: 16:8862763-8862763
GRCh38: 16:8768906-8768906
46 ABAT NM_020686.6(ABAT):c.446C>T (p.Ser149Leu) SNV Uncertain significance 281461 rs374113959 GRCh37: 16:8858005-8858005
GRCh38: 16:8764148-8764148
47 ABAT NM_020686.6(ABAT):c.668-3C>T SNV Uncertain significance 460327 rs375716049 GRCh37: 16:8862679-8862679
GRCh38: 16:8768822-8768822
48 ABAT NM_020686.6(ABAT):c.1410_1411delinsGA (p.Ser471Thr) Indel Uncertain significance 656967 rs1596475613 GRCh37: 16:8875194-8875195
GRCh38: 16:8781337-8781338
49 ABAT NM_020686.6(ABAT):c.538C>T (p.Arg180Trp) SNV Uncertain significance 650563 rs746589996 GRCh37: 16:8858685-8858685
GRCh38: 16:8764828-8764828
50 ABAT NM_020686.6(ABAT):c.314T>C (p.Ile105Thr) SNV Uncertain significance 646722 rs1596454443 GRCh37: 16:8844394-8844394
GRCh38: 16:8750537-8750537

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

72
# Symbol AA change Variation ID SNP ID
1 ABAT p.Arg220Lys VAR_008883 rs121434578

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:

36
# 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 ALDH5A1 ABAT

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 ALDH5A1 ABAT
2 gamma-aminobutyric acid metabolic process GO:0009448 8.96 ALDH5A1 ABAT
3 gamma-aminobutyric acid catabolic process GO:0009450 8.62 ALDH5A1 ABAT

Sources for Gaba-Transaminase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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