Journal
JOURNAL OF PEDIATRICS
Volume 148, Issue 6, Pages 828-830Publisher
MOSBY-ELSEVIER
DOI: 10.1016/j.jpeds.2006.01.043
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Funding
- Telethon [GGP04092] Funding Source: Medline
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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.
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