Guanidinoacetate N-methyltransferase (GAMT)

Guanidinoacetate N-methyltransferase is a key enzyme in the biosynthesis of creatine, catalyzing the transfer of a methyl group from S-adenosylmethionine to guanidinoacetate to produce creatine, a molecule critical for energy storage and utilization in cells, especially neurons and myocytes[1][2][3]. Its deficiency leads to a rare but treatable neurometabolic disorder characterized by mental retardation, movement disorder, seizures, and muscle hypotonia; creatine supplementation can ameliorate many symptoms[3][5]. GAMT is predominantly expressed in the liver, brain, and certain glial cells (notably oligodendrocytes), and supports cellular energy metabolism and neurodevelopment. GAMT's function links methyl group metabolism to ATP buffering, highlighting its fundamental biological importance[1][4].

Other names

GAMTGuanidinoacetate methyltransferaseGuanidinoacetate transmethylaseMethionine-guanidinoacetic transmethylaseGA methylpherasePIG2TP53I2HEL-S-20CCDS2Epididymis secretory protein Li 20Guanidoacetate methyltransferase

Creatine supplementation: supplies missing creatine, bypassing the metabolic block caused by GAMT deficiency