Creatine and Its Metabolites

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发表日期：

2024年

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Desirée E. C. Smith,
Mirjam M. C. Wamelink,
Gajja S. Salomons,
Jiddeke M. van de Kamp

摘要

Inborn errors of creatine metabolism, l-arginine:glycine amidinotransferase (AGAT) and guanidinoacetate methyltransferase (GAMT) and transport, creatine transporter (SLC6A8) deficiency lead to alterations in the metabolites involved, namely creatine and guanidinoacetic acid. Methods for quantitative measurements of these metabolites in urine, plasma, and CSF by either GC-MS or LC-MS/MS are described. Additional confirmatory enzyme assays for all three creatine deficiencies involving the same methods used to detect changes in metabolite levels are also described in this chapter. In addition, newborn screening for GAMT is available in some countries and is briefly described.