MCID: LRG010
MIFTS: 17

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 54
Arginine:glycine Amidinotransferase Deficiency 54 74
Creatine Deficiency Syndrome Due to Agat Deficiency 54
L-Arginine:glycine Amidinotransferase 13
Agat Deficiency 54
Gatm Deficiency 54

Classifications:



External Ids:

UMLS 74 C2675179

Summaries for L-Arginine:glycine Amidinotransferase Deficiency

NIH Rare Diseases : 54 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 and cerebral creatine deficiency syndrome 1. An important gene associated with L-Arginine:glycine Amidinotransferase Deficiency is GATM (Glycine Amidinotransferase). The drugs Glycine and Creatine have been mentioned in the context of this disorder. Affiliated tissues include brain and kidney.

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 12.3
2 cerebral creatine deficiency syndrome 1 11.3
3 pancreatic ductal adenocarcinoma 10.8
4 renal oncocytoma 10.8
5 polycystic kidney disease 10.8
6 muscle disorders 10.0
7 myopathy 10.0

Graphical network of the top 20 diseases related to L-Arginine:glycine Amidinotransferase Deficiency:



Diseases related to L-Arginine:glycine Amidinotransferase Deficiency

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
Glycine Approved, Nutraceutical, Vet_approved 56-40-6 750
2
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
3 arginine

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Biomarker for Creatine Deficiency Syndromes (BioCDS) 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:

42
Brain, Kidney

Publications for L-Arginine:glycine Amidinotransferase Deficiency

Articles related to L-Arginine:glycine Amidinotransferase Deficiency:

# Title Authors Year
1
Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency. ( 28148286 )
2017
2
Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM. ( 27233232 )
2016
3
L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome. ( 23026748 )
2013
4
Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency. ( 22386973 )
2012
5
Arginine:glycine amidinotransferase deficiency: a treatable metabolic encephalomyopathy. ( 20625172 )
2010
6
Gas chromatography/mass spectrometry assay for arginine: glycine-amidinotransferase deficiency. ( 15978539 )
2005
7
Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency. ( 12709373 )
2003
8
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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