As with other cerebral creatine deficiency syndromes, individuals affected with AGAT deficiency are intellectually disabled and can have seizures. They can often have muscle weakness. These symptoms are caused by the lack of creatine in skeletal muscles and in the brain. AGAT deficiency was first identified in 2000, in a pair of sisters aged 4 and 6. Both sisters had severe intellectual disability.
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