Format

Send to

Choose Destination
See comment in PubMed Commons below
J Pediatr. 2006 Jun;148(6):828-30.

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

Author information

1
Department of Developmental Neuroscience, IRCCS Stella Maris, Calambrone (Pisa), Italy.

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.

PMID:
16769397
DOI:
10.1016/j.jpeds.2006.01.043
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Support Center