# AGAT deficiency

> amino acid metabolic disorder that has material basis in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis

**Wikidata**: [Q18553418](https://www.wikidata.org/wiki/Q18553418)  
**Source**: https://4ort.xyz/entity/agat-deficiency


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/d63bfeff-882d-400f-af17-277a702fd09b--2019-03-08T17:00:00)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d63bfeff-882d-400f-af17-277a702fd09b-2019-03-08T170000.000Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000171766/MONDO_0012996)
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000171766/Orphanet_35704)
9. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)