MCID: LRG010
MIFTS: 12

L-Arginine:glycine Amidinotransferase Deficiency

Categories: Rare diseases

Aliases & Classifications for L-Arginine:glycine Amidinotransferase Deficiency

MalaCards integrated aliases for L-Arginine:glycine Amidinotransferase Deficiency:

Name: L-Arginine:glycine Amidinotransferase Deficiency 49
Arginine:glycine Amidinotransferase Deficiency 49 69
Creatine Deficiency Syndrome Due to Agat Deficiency 49
L-Arginine:glycine Amidinotransferase 13
Agat Deficiency 49
Gatm Deficiency 49

Classifications:



External Ids:

UMLS 69 C2675179

Summaries for L-Arginine:glycine Amidinotransferase Deficiency

NIH Rare Diseases : 49 L-arginine:glycine amidinotransferase (AGAT) deficiency is a rare condition that primarily affects the brain. People with AGAT deficiency generally have mild to moderate intellectual disability. Other signs and symptoms may include seizures, delayed language development, muscle weakness, failure to thrive, autistic behaviors, and delayed motor milestones (i.e. walking, sitting). AGAT deficiency is caused by changes (mutations) in the GATM gene and is inherited in an autosomal recessive manner. Treatment of AGAT deficiency is focused on increasing cerebral creatine levels and generally consists of supplementation with creatine monohydrate. Last updated: 11/18/2015

MalaCards based summary : L-Arginine:glycine Amidinotransferase Deficiency, also known as arginine:glycine amidinotransferase deficiency, is related to cerebral creatine deficiency syndrome 3. An important gene associated with L-Arginine:glycine Amidinotransferase Deficiency is GATM (Glycine Amidinotransferase). The drug Creatine has been mentioned in the context of this disorder. Affiliated tissues include brain.

Related Diseases for L-Arginine:glycine Amidinotransferase Deficiency

Diseases related to L-Arginine:glycine Amidinotransferase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cerebral creatine deficiency syndrome 3 11.7

Symptoms & Phenotypes for L-Arginine:glycine Amidinotransferase Deficiency

Drugs & Therapeutics for L-Arginine:glycine Amidinotransferase Deficiency

Drugs for L-Arginine:glycine Amidinotransferase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Creatine Approved, Investigational, Nutraceutical 57-00-1 586

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Biomarker for Creatine Deficiency Syndromes Recruiting NCT02934854

Search NIH Clinical Center for L-Arginine:glycine Amidinotransferase Deficiency

Genetic Tests for L-Arginine:glycine Amidinotransferase Deficiency

Anatomical Context for L-Arginine:glycine Amidinotransferase Deficiency

MalaCards organs/tissues related to L-Arginine:glycine Amidinotransferase Deficiency:

38
Brain

Publications for L-Arginine:glycine Amidinotransferase Deficiency

Articles related to L-Arginine:glycine Amidinotransferase Deficiency:

# Title Authors Year
1
L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome. ( 23026748 )
2013
2
Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency. ( 12709373 )
2003

Variations for L-Arginine:glycine Amidinotransferase Deficiency

ClinVar genetic disease variations for L-Arginine:glycine Amidinotransferase Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GATM NM_001482.2(GATM): c.484+1G> T single nucleotide variant Pathogenic rs80338738 GRCh37 Chromosome 15, 45661523: 45661523
2 GATM NM_001482.2(GATM): c.1111dupA (p.Met371Asnfs) duplication Pathogenic rs397515542 GRCh37 Chromosome 15, 45656146: 45656146
3 GATM NM_001482.2(GATM): c.505C> T (p.Arg169Ter) single nucleotide variant Pathogenic rs397514708 GRCh37 Chromosome 15, 45660438: 45660438
4 GATM NM_001482.2(GATM): c.608A> C (p.Tyr203Ser) single nucleotide variant Pathogenic rs397514709 GRCh37 Chromosome 15, 45660335: 45660335
5 GATM NM_001482.2(GATM): c.446G> A (p.Trp149Ter) single nucleotide variant Pathogenic rs80338737 GRCh37 Chromosome 15, 45661562: 45661562

Expression for L-Arginine:glycine Amidinotransferase Deficiency

Search GEO for disease gene expression data for L-Arginine:glycine Amidinotransferase Deficiency.

Pathways for L-Arginine:glycine Amidinotransferase Deficiency

GO Terms for L-Arginine:glycine Amidinotransferase Deficiency

Sources for L-Arginine:glycine Amidinotransferase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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50 NINDS
51 Novoseek
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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