AGAT deficiency (DOID:0050712)
Alliance: disease page
Synonyms: arginine glycine amidinotransferase deficiency; Cerebral creatine deficiency syndrome 3
Alt IDs: OMIM:612718
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.