AGAT Deficiency

Arginine: Glycine Amidinotransferase (AGAT) is the first step of creatine synthesis, resulting in the formation of guanidinoacetate, the immediate precursor of creatine. Mutations found in the GATM gene impair the body’s production of creatine resulting in AGAT Deficiency.


Treatment with oral supplementation is available and effective if initiated early for AGAT Deficiency patients. Supplementation includes Creatine Monohydrate.

Dosing and supplementation may vary from patient to patient. The ACD does not recommend or advise any supplementation to be taken without physician supervision.

Links to AGAT Medical References:

Genetics Home Reference


Science Direct