DISEASES

Disease-gene associations mined from literature

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,  DOID:0050712,  arginine:glycine amidinotransferase deficiency