Arginine: glycine amidinotransferase (AGAT) deficiency in a newborn: Early treatment can prevent phenotypic expression of the disease

Roberta Battini; M. Grazia Alessandrì; Vincenzo Leuzzi; Francesca Moro; Michela Tosetti; Maria C. Bianchi; Giovanni Cioni

doi:10.1016/j.jpeds.2006.01.043

Arginine: glycine amidinotransferase (AGAT) deficiency in a newborn: Early treatment can prevent phenotypic expression of the disease

Roberta Battini, M. Grazia Alessandrì, Vincenzo Leuzzi, Francesca Moro, Michela Tosetti, Maria C. Bianchi, Giovanni Cioni

Fondazione Stella Maris

Research output: Contribution to journal › Article

Abstract

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.

Original language	English
Pages (from-to)	828-830
Number of pages	3
Journal	Journal of Pediatrics
Volume	148
Issue number	6
DOIs	https://doi.org/10.1016/j.jpeds.2006.01.043
Publication status	Published - Jun 2006

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ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

Cite this

Battini, R., Alessandrì, M. G., Leuzzi, V., Moro, F., Tosetti, M., Bianchi, M. C., & Cioni, G. (2006). Arginine: glycine amidinotransferase (AGAT) deficiency in a newborn: Early treatment can prevent phenotypic expression of the disease. Journal of Pediatrics, 148(6), 828-830. https://doi.org/10.1016/j.jpeds.2006.01.043

Arginine : glycine amidinotransferase (AGAT) deficiency in a newborn: Early treatment can prevent phenotypic expression of the disease. / Battini, Roberta ; Alessandrì, M. Grazia; Leuzzi, Vincenzo; Moro, Francesca ; Tosetti, Michela; Bianchi, Maria C.; Cioni, Giovanni.

In: Journal of Pediatrics, Vol. 148, No. 6, 06.2006, p. 828-830.

Research output: Contribution to journal › Article

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10.1016/j.jpeds.2006.01.043