Zusammenfassung
Creatine deficiency syndromes (CDS) are a group of inborn errors of creatine synthesis (arginine:glycine amidinotransferase (AGAT) (MIM 602360), guanidinoacetate methyltransferase (GAMT) (MIM 601240) deficiencies), and transport [the X-linked creatine transporter (CRTR)] (MIM 300036) deficiency. CDS typically present with cerebral creatine deficiency and global developmental delay/ intellectual disability along with various neurological manifestations. Diagnostic markers include high and low guanidinoacetate concentrations in body fluids in GAMT and AGAT deficiency, respectively, and increased urinary creatine/creatinine in CRTR deficiency. Oral supplementation of creatine leads to near complete restoration of cerebral creatine in creatine synthesis defects: In GAMT deficiency, reduction of guanidinoacetate is achieved by ornithine supplementation and / or dietary arginine restriction. In CRTR deficiency, creatine, arginine and glycine supplementation does not significantly improve outcome, although partial clinical improvement has been reported in single patients. Normal neurodevelopmental outcome has been reported in early treated patients with creatine synthesis defects. Secondary changes in creatine metabolism have been described in disorders affecting arginine and ornithine metabolism such as ornithine aminotransferase (OAT) deficiency, urea cycle defects, hyperammonemia, hyperornithinemia, homocitrullinuria syndrome, Δ(1)-pyrroline-5-carboxylate synthetase deficiency, in methylcobalamin synthesis and mitochondrial defects
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Stöckler-Ipsiroglou, S., Mercimek-Mahmutoglu, S., Salomons, G.S. (2016). Creatine Deficiency Syndromes. In: Saudubray, JM., Baumgartner, M., Walter, J. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49771-5_15
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