<unk>  or AGAT<unk>  is an autosomal recessive cerebral creatine<unk>  caused by a<unk>  of the enzyme<unk><unk><unk> . This enzyme<unk>  results in decreased creatine synthesis, and is caused by biallelic pathogenic variants in GATM. Individuals with AGAT<unk>  are intellectually disabled and have muscle weakness. The symptoms of AGAT<unk>  are caused by the lack of creatine in specific tissues, most notably muscle and brain. Oral creatine supplementation can be used to treat AGAT<unk> , with early intervention providing the best results. All creatine<unk> es are rare, and there have been fewer than 20 individuals reported in medical literature with AGAT<unk> . This disorder was first described in 2000.
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