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
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AGAT deficiency
Summary
AGAT deficiency is a rare disease[1]. It is known by 11 alternative names across languages and contexts.[2]
Key Facts
- AGAT deficiency's instance of is recorded as rare disease[3].
- AGAT deficiency's instance of is recorded as class of disease[4].
- AGAT deficiency is a type of cerebral creatine deficiency syndrome[5].
- AGAT deficiency is a type of neurometabolic disease[6].
- AGAT deficiency is a type of genetic disease[7].
- AGAT deficiency's ICD-9-CM is recorded as 270.8[8].
- AGAT deficiency's NCI Thesaurus ID is recorded as C198575[9].
- AGAT deficiency's genetic association is recorded as GATM[10].
- AGAT deficiency's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050712[11].
- AGAT deficiency's exact match is recorded as http://identifiers.org/doid/DOID:0050712[12].
- AGAT deficiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_35704[13].
- AGAT deficiency's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
Why It Matters
AGAT deficiency is known by 11 alternative names across languages and contexts.[2]