MCID: LRG010
MIFTS: 13

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 72
Creatine Deficiency Syndrome Due to Agat Deficiency 53
Agat Deficiency 53
Gatm Deficiency 53

Classifications:



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UMLS 72 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 and cerebral creatine deficiency syndrome. An important gene associated with L-Arginine:glycine Amidinotransferase Deficiency is GATM (Glycine Amidinotransferase). 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 12.4
2 cerebral creatine deficiency syndrome 11.7
3 cerebral creatine deficiency syndrome 1 11.5
4 alacrima, achalasia, and mental retardation syndrome 10.5
5 hypotonia 10.5
6 creatine deficiency syndromes 10.4
7 autosomal recessive disease 10.3
8 myopathy 10.3
9 homocysteinemia 10.0
10 inherited metabolic disorder 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

Search Clinical Trials , 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 PMID Year
1
Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency. 38
28148286 2017
2
L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome. 38
23026748 2013
3
Creatine metabolism in urea cycle defects. 38
22644604 2012
4
Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency. 38
22386973 2012
5
Arginine:glycine amidinotransferase deficiency: a treatable metabolic encephalomyopathy. 38
20625172 2010
6
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. 38
18652076 2007
7
Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease. 38
16769397 2006
8
Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency. 38
12709373 2003
9
Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment. 38
12597058 2002
10
Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. 38
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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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