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Article

L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome.

Human molecular genetics - 1 Jan 2013

Choe Chi-un, Nabuurs Christine, Stockebrand Malte C, Neu Axel, Nunes Patricia, Morellini Fabio, Sauter Kathrin, Schillemeit Stefan, Hermans-Borgmeyer Irm, Marescau Bart, Heerschap Arend, Isbrandt Dirk

Abstract excerpt

Phosphorylated creatine (Cr) serves as an energy buffer for ATP replenishment in organs with highly fluctuating energy demand. The central role of Cr in the brain and muscle is emphasized by severe neurometabolic disorders caused by Cr deficiency. Common symptoms of inborn errors of creatine synthesis or distribution include mental retardation and muscular weakness. Human mutations in l-arginine:glycine...

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PMID: 23026748
DOI: 10.1093/hmg/dds407

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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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