<unk>  (GAMT deficiency), is an autosomal recessive cerebral creatine deficiency that primarily affects the nervous system and muscles. It is the first described disorder of creatine metabolism, and results from deficient activity of<unk><unk> , an enzyme involved in the synthesis of creatine. Clinically, affected individuals often present with hypotonia, seizures and developmental delay. Diagnosis can be suspected on clinical findings, and confirmed by specific biochemical tests, brain magnetic resonance spectroscopy, or genetic testing. Biallelic pathogenic variants in GAMT are the underlying cause of the disorder. After GAMT deficiency is diagnosed, it can be treated by dietary adjustments, including supplementation with creatine. Treatment is highly effective if started early in life. If treatment is started late, it cannot reverse brain damage which has already taken place.
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