Human genes for AGAT deficiency
AGAT deficiency [DOID:0050712]
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.
Synonyms: AGAT deficiency, AGAT deficiencies, DOID:0050712, arginine:glycine amidinotransferase deficiency, CEREBRAL CREATINE DEFICIENCY SYNDROME 3
Linkouts: OMIM