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Article

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

The Journal of pediatrics - 1 Jun 2006

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

Abstract excerpt

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 wi...

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Source

Identifiers

PMID: 16769397
DOI: 10.1016/j.jpeds.2006.01.043

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16769397-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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