TY - JOUR
T1 - Arginine
T2 - glycine amidinotransferase (AGAT) deficiency in a newborn: Early treatment can prevent phenotypic expression of the disease
AU - Battini, Roberta
AU - Alessandrì, M. Grazia
AU - Leuzzi, Vincenzo
AU - Moro, Francesca
AU - Tosetti, Michela
AU - Bianchi, Maria C.
AU - Cioni, Giovanni
PY - 2006/6
Y1 - 2006/6
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=33745016252&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=33745016252&partnerID=8YFLogxK
U2 - 10.1016/j.jpeds.2006.01.043
DO - 10.1016/j.jpeds.2006.01.043
M3 - Article
C2 - 16769397
AN - SCOPUS:33745016252
VL - 148
SP - 828
EP - 830
JO - Journal of Pediatrics
JF - Journal of Pediatrics
SN - 0022-3476
IS - 6
ER -