GAMT (EC 2.1.1.2) catalyzes the second step in the creatine biosynthetic pathwayBiallelic pathogenic variants in GAMT are associated with<unk> . This gene codes for the enzyme<unk><unk>  (GAMT), which participates in the two-step synthesis of the compound creatine from amino acids glycine, arginine and methionine. Specifically, GAMT controls the second step of the sequence, in which creatine is produced from another compound called<unk> . The effects of GAMT deficiency are most severe in organs and tissues that require large amounts of energy, such as the brain and muscles. This disorder is inherited in an autosomal recessive manner, which means the causative gene is located on an autosome, and two defective copies of the gene - one from each parent - are required to inherit the disorder. The parents both carry one pathogenic variant, however they are not affected by the disorder. As carriers, the residual activity of approximately 50% is enough to avoid clinical complications. Unaffected siblings of an affected individual have a 2/3 chance of being carriers.
Guanidinoacetate methyltransferase deficiency
Holocarboxylase synthetase deficiency
Carbamoyl phosphate synthetase I deficiency
Ornithine translocase deficiency
2,4 Dienoyl-CoA reductase deficiency
Mevalonate kinase deficiency
Aminoacylase 1 deficiency
Arginine:glycine amidinotransferase deficiency