Arginine: Glycine Amidinotransferase (AGAT)

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

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

Orphanet

Science Direct