Term Name: AGAT deficiency
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 )

Relationships
is a type of: autosomal recessive disease cerebral creatine deficiency syndrome