Guanidinoacetate Methyltransferase Deficiency (GAMT)

Guanidinoacetate Methyltransferase Deficiency (GAMT) is a mutation in the GAMT gene that makes the enzyme that creates creatine, resulting in a shortage of creatine.

Treatment

Treatment with oral supplementation is available and effective, if initiated early for GAMT patients. Supplementation may include Creatine Monohydrate, L-ornithine and Sodium Benzoate.

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 GAMT Medical References:

Think Genetic

Genetics Home Reference

Orphanet

Science Direct