Term Name: | AGAT deficiency |
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Synonyms: | arginine glycine amidinotransferase deficiency, Cerebral creatine deficiency syndrome 3 |
Definition: | An 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. |
Ontology: | Human Disease [DOID:0050712] ( DOID:0050712 ) |