L-Arginine:glycine Amidinotransferase Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Global: Rare diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷⁴ C2675179

Sources

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.

Sources

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
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:

Sources

Symptoms & Phenotypes for L-Arginine:glycine Amidinotransferase Deficiency

Sources

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

Synonyms:

(1-13c)glycinato

(15N)Glycine

15527_RIEDEL

15527_SIAL

15743-44-9 (mono-potassium salt)

17829-66-2 (cobalt salt)

18875-39-3

2,2-dialkylglycines

2311-65-1

25718-94-9

29728-27-6 (monoammonium salt)

2-Aminoacetate

2-Aminoacetic acid

32817-15-5 (copper salt)

33226_RIEDEL

33226_SIAL

33242-26-1 (calcium salt)

35947-07-0 (calcium salt (2:1))

410225_SIAL

50046_FLUKA

50046_SIGMA

513-29-1 (sulfate (3:1))

52955-63-2

56-40-6

57678-19-0

6000-43-7 (hydrochloride)

6000-44-8 (mono-hydrochloride salt)

63183-41-5 (hydrochloride hydrogen carbonate)

71295-98-2 (phosphate (1:1))

7490-95-1 (hydrochloride (2:1)

7490-95-1 (hydrochloride (2:1))

7575-55-5

848646-45-7

87867-94-5

AB1002628

AB-131/40217813

AC1L19XW

AC1Q28JW

AC1Q53O0

Acid, aminoacetic

Acide aminoacetique

Acide aminoacetique [INN-French]

Acido aminoacetico

Acido aminoacetico [INN-Spanish]

Acidum aminoaceticum

Acidum aminoaceticum [INN-Latin]

Aciport

AI3-04085

AKOS000119626

amino-Acetate

Aminoacetate

aminoacetic acid

amino-Acetic acid

Aminoacetic acid

AMINOACETIC ACID 1.5% IN PLASTIC CONTAINER

Aminoazijnzuur

Aminoessigsaeure

Aminoessigsäure

Aminoethanoate

Aminoethanoic acid

Amitone

an alpha amino acid ester

AR-1A0345

AR-1A0532

B72BA06C-60E9-4A83-A24A-A2D7F465BB65

Biomol-NT_000195

bmse000089

BPBio1_001222

C00037

Calcium salt glycine

CCRIS 5915

CHEBI:15428

CHEBI:15705

CHEBI:16228

CHEMBL773

CID750

Cobalt salt glycine

Copper salt glycine

Corilin

CPD-8569

D00011

DB00145

EINECS 200-272-2

FEMA No. 3287

FT-0083159

G

G0099

G0317

G5417_SIGMA

G5523_SIGMA

G7126_SIGMA

G7403_SIGMA

G8790_SIGMA

G8898_SIGMA

Glicina

Glicina [INN-Spanish]

Glicoamin

gly

Gly

GLY (IUPAC abbrev)

Glycin

glycine

Glycine

Glycine (JP15/USP)

Glycine [INN]

GLYCINE 1.5% IN PLASTIC CONTAINER

Glycine carbonate (1:1), monosodium salt

Glycine carbonate (2:1), monolithium salt

Glycine carbonate (2:1), monopotassium salt

Glycine carbonate (2:1), monosodium salt

Glycine hydrochloride

Glycine hydrochloride (2:1)

Glycine iron sulphate (1:1)

Glycine phosphate

Glycine phosphate (1:1)

Glycine sulfate (3:1)

GLYCINE, ACS

Glycine, calcium salt

Glycine, calcium salt (2:1)

Glycine, cobalt salt

Glycine, copper salt

Glycine, homopolymer (VAN)

Glycine, labeled with carbon-14

Glycine, monoammonium salt

Glycine, monopotasssium salt

Glycine, monosodium salt

Glycine, non-medical

Glycine, sodium hydrogen carbonate

Glycine-UL-14C hydrochloride

Glycinum

Glycinum [INN-Latin]

Glycocoll

Glycolixir

Glycosthene

Glykokoll

Glyzin

Gyn-hydralin

H2N-CH2-COOH

Hampshire glycine

Hgly

H-Gly-OH

HSDB 495

Hydrochloride, glycine

InChI=1/C2H5NO2/c3-1-2(4)5/h1,3H2,(H,4,5

KST-1A2919

KST-1A8102

L001246

L-alpha-amino acids

Leimzucker

L-Glycine

LS-218

MolPort-000-871-607

Monoammonium salt glycine

Monopotasssium salt glycine

Monosodium salt glycine

NCGC00024503-01

NCGC00024503-02

nchem.554-comp2

nchembio.121-comp9

nchembio.145-comp33

nchembio.198-comp12

NChemBio.2007.13-comp1

nchembio.265-comp9

nchembio.266-comp30

NSC 25936

NSC25936

P8791_SIGMA

Padil

Phosphate, glycine

polyglycine

Polyglycine II

S04-0135

Salt glycine, monoammonium

Salt glycine, monosodium

Sucre de gelatine

Tocris-0219

UNII-TE7660XO1C

W328707_ALDRICH

WLN: Z1VQ

2

Creatine

Approved, Investigational, Nutraceutical

57-00-1

586

Synonyms:

((amino(imino)Methyl)(methyl)amino)acetate

((amino(imino)Methyl)(methyl)amino)acetic acid

((amino(Imino)methyl)(methyl)amino)acetic acid

(alpha-methylguanido)Acetate

(alpha-methylguanido)Acetic acid

(alpha-Methylguanido)acetic acid

(a-methylguanido)Acetate

(a-methylguanido)Acetic acid

(N-methylcarbamimidamido)Acetate

(N-methylcarbamimidamido)acetic acid

(N-methylcarbamimidamido)Acetic acid

(α-methylguanido)acetate

(α-methylguanido)acetic acid

[[amino(imino)Methyl](methyl)amino]acetate

[[amino(imino)Methyl](methyl)amino]acetic acid

alpha-methylguanidino Acetate

alpha-methylguanidino Acetic acid

alpha-Methylguanidino acetic acid

a-methylguanidino Acetate

a-methylguanidino Acetic acid

Cosmocair C 100

Creatin

Creatine

Creatine hydrate

Kreatin

Krebiozon

Methylglycocyamine

Methylguanidoacetate

Methylguanidoacetic acid

N-(aminoiminomethyl)-N-methylglycine

N-(Aminoiminomethyl)-N-methylglycine

N-(Aminoiminomethyl)-N-methyl-glycine

N-[(e)-amino(imino)METHYL]-N-methylglycine

N-amidinosarcosine

N-Amidinosarcosine

N-carbamimidoyl-N-methylglycine

N-Carbamimidoyl-N-methylglycine

N-methyl-N-guanylglycine

N-Methyl-N-guanylglycine

Phosphagen

α-methylguanidino acetate

α-methylguanidino acetic acid

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

Sources

Genetic Tests for L-Arginine:glycine Amidinotransferase Deficiency

Sources

Anatomical Context for L-Arginine:glycine Amidinotransferase Deficiency

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

⁴²

Brain, Kidney

Sources

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 )	Battini R...Cioni G	2017
2	Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM. ( 27233232 )	DesRoches CL...Mercimek-Mahmutoglu S	2016
3	L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome. ( 23026748 )	Choe CU...Isbrandt D	2013
4	Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency. ( 22386973 )	Ndika JD...Salomons GS	2012
5	Arginine:glycine amidinotransferase deficiency: a treatable metabolic encephalomyopathy. ( 20625172 )	Verma A	2010
6	Gas chromatography/mass spectrometry assay for arginine: glycine-amidinotransferase deficiency. ( 15978539 )	Alessandr? MG...Cioni G	2005
7	Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency. ( 12709373 )	Verhoeven NM...Jakobs C	2003
8	Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. ( 11555793 )	Item CB...Cioni G	2001

Sources

Genes for L-Arginine:glycine Amidinotransferase Deficiency

Genes related to L-Arginine:glycine Amidinotransferase Deficiency (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GATM	Glycine Amidinotransferase	Protein Coding	17.7	GeneCards inferred via : Publications (show sections)

Sources

Variations for L-Arginine:glycine Amidinotransferase Deficiency

Sources

Expression for L-Arginine:glycine Amidinotransferase Deficiency

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

Sources

Pathways for L-Arginine:glycine Amidinotransferase Deficiency

Sources

GO Terms for L-Arginine:glycine Amidinotransferase Deficiency

Sources

Sources for L-Arginine:glycine Amidinotransferase Deficiency

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia