Article
Laboratory diagnosis of defects of creatine biosynthesis and transport.
Clinica chimica acta; international journal of clinical chemistry - 1 Nov 2005
Verhoeven Nanda M, Salomons Gajja S, Jakobs Cornelis
Abstract excerpt
In recent years, three inherited defects in the biosynthesis and transport of creatine have been described. The biosynthetic defects include deficiencies of L-arginine:glycine amidinotransferase and guanidinoacetate methyltransferase. The third defect is a functional defect in the creatine transporter (SLC6A8). Clinical symptoms of the three defects vary in severity, are aspecific and include mental retardation...
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