GATM : glycine amidinotransferase

Understanding the GATM Gene and Its Role in Energy Metabolism

Description

The GATM gene plays a crucial role in the synthesis of creatine, a vital compound for energy metabolism in the body. It encodes the enzyme arginine:glycine amidinotransferase, which catalyzes the first step in the two-stage production of creatine.

Associated Diseases

Mutations in the GATM gene can lead to a rare genetic disorder called guanidinoacetate methyltransferase deficiency (GAMT deficiency). This disorder affects the final step in creatine synthesis, resulting in a buildup of guanidinoacetic acid in the blood and urine. GAMT deficiency can lead to intellectual disability, developmental delays, and movement problems.

Did you Know ?

Creatine is primarily stored in skeletal muscle, where it acts as a reservoir of energy for high-intensity, short-duration activities. Research suggests that creatine supplementation can improve performance in these activities by up to 5-15%.