Arginine:glycine amidinotransferase (AGAT) deficiency
Arginine:glycine amidinotransferase deficiency is an inherited disorder that primarily affects the brain. People with this disorder have mild to moderate intellectual disability and delayed speech development. Some affected individuals develop autistic behaviors that affect communication and social interaction. They may experience seizures, especially when they have a fever.
Associated Genes
| Gene Name | Chromosome number | BMRB Entries | PDB Entries |
|---|---|---|---|
| GATM | 15 | PDB Entries | |
| GAMT | 19 | PDB Entries |