AGAT (EC 2.1.4.1) catalyzes the first step in the creatine biosynthetic pathwayAGAT deficiency is caused by deficient activity of<unk><unk><unk> , which is coded for by GATM, located on the long arm of chromosome 15. AGAT deficiency is inherited in an autosomal recessive manner, which means pathogenic variants must be inherited from each parent. This enzyme catalyzes the first step in creatine biosynthesis, the combination of<unk>  and<unk>  to form guanidinoacetate, which also results in the formation or ornithine as a by product. These reactions take place primarily in the kidney and pancreas. The clinical manifestations of AGAT deficiency are caused by the decreased amounts of creatine produced.
Arginine:glycine amidinotransferase deficiency
Galactose-1-phosphate uridylyltransferase deficiency
Ornithine aminotransferase deficiency
Ribose-5-phosphate isomerase deficiency
Aminoacylase 1 deficiency
Malonyl-CoA decarboxylase deficiency
Carbamoyl phosphate synthetase I deficiency
Guanidinoacetate methyltransferase deficiency