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

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)828-830
Number of pages3
JournalJournal of Pediatrics
Volume148
Issue number6
DOIs
Publication statusPublished - Jun 2006

    Fingerprint

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this