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Article

Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans.

American journal of human genetics - 1 Nov 2001

Item C B, Stöckler-Ipsiroglu S, Stromberger C, Mühl A, Alessandrì M G, Bianchi M C, Tosetti M, Fornai F, Cioni G

Abstract excerpt

Arginine:glycine amidinotransferase (AGAT) catalyzes the first step of creatine synthesis, resulting in the formation of guanidinoacetate, which is a substrate for creatine formation. In two female siblings with mental retardation who had brain creatine deficiency that was reversible by means of oral creatine supplementation and had low urinary guanidinoacetate concentrations, AGAT deficiency was identified as a...

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Identifiers

PMID: 11555793
DOI: 10.1086/323765
PMCID: PMC1274356

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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