Arginine:glycine amidinotransferase deficiency is a treatable inborn error of creatine synthesis, characterized by mental retardation, language impairment, and behavioral disorders. We describe a patient in whom arginine:glycine amidinotransferase was diagnosed at birth and treated at 4 months with creatine supplementation. In contrast with his 2 older sisters, he had normal psychomotor development at 18 months.
|Autori:||BATTINI R; ALESSANDRÌ M.G; LEUZZI V; MORO F; TOSETTI M; BIANCHI M.C; CIONI G|
|Titolo:||Arginine: glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotopic expression of the disease|
|Anno del prodotto:||2006|
|Appare nelle tipologie:||1.1 Articolo in rivista|