MCID: LRG010
MIFTS: 14

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 53
Arginine:glycine Amidinotransferase Deficiency 53 73
Creatine Deficiency Syndrome Due to Agat Deficiency 53
L-Arginine:glycine Amidinotransferase 13
Agat Deficiency 53
Gatm Deficiency 53

Classifications:



External Ids:

UMLS 73 C2675179

Summaries for L-Arginine:glycine Amidinotransferase Deficiency

NIH Rare Diseases : 53 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.

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 12.1

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 Terminated 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:

41
Brain

Publications for L-Arginine:glycine Amidinotransferase Deficiency

Articles related to L-Arginine:glycine Amidinotransferase Deficiency:

# Title Authors Year
1
Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM. ( 27233232 )
2016
2
L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome. ( 23026748 )
2013
3
Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency. ( 22386973 )
2012
4
Arginine:glycine amidinotransferase deficiency: a treatable metabolic encephalomyopathy. ( 20625172 )
2010
5
Gas chromatography/mass spectrometry assay for arginine: glycine-amidinotransferase deficiency. ( 15978539 )
2005
6
Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency. ( 12709373 )
2003
7
Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. ( 11555793 )
2001

Variations for L-Arginine:glycine Amidinotransferase Deficiency

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
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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