Individuals with GAMT<unk>  appear normal at birth. Shortly after birth, infants may start to show signs, as the consequences of decreased creatine levels in their body become more apparent. These clinical findings are relatively non-specific, and do not immediately suggest a disorder of creatine metabolism. Common clinical findings, as with other cerebral creatine<unk> es, include developmental delay (both intellectual and motor), seizures and hypotonia. Speech delay, autism, and self-injurious behaviour have also been described.
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