Treatment of GAMT deficiency focuses on restoration of depleted brain creatine with creatine supplementation in pharmacologic doses, and removal of toxic intermediates via ornithine supplementation. All patients are reported to benefit by this treatment, with improvements in muscular hypotonia, dyskinesia, social contact, alertness and behavior. Seizures appear to reduce more with dietary arginine restriction and ornithine supplementation. Despite treatment, none of the patients have been reported to return to completely normal developmental level, if significant damage had taken place before treatment. Prior to the addition of GAMT deficiency to newborn screening panels, younger siblings of affected individuals may have been tested at birth and treated early. This early treatment can result in outcomes that are very close to normal.
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