TY - CHAP M1 - Book, Section TI - Creatine Deficiency Syndromes A1 - Schulze, Andreas A1 - Braissant, Olivier A2 - Sarafoglou, Kyriakie A2 - Hoffmann, Georg F. A2 - Roth, Karl S. PY - 2017 T2 - Pediatric Endocrinology and Inborn Errors of Metabolism, 2e AB - Hereditary defects of creatine (Cr) synthesis or transport of Cr are described as Cr deficiency syndromes (CDSs).1 The group of CDSs consists of three different diseases: arginine:glycine amidinotransferase (AGAT), guanidinoacetate methyltransferase (GAMT), and Cr transporter (CrT) deficiency. They essentially affect the brain, where their common denominator is the virtually complete absence of Cr and phosphocreatine (PCr) when measured by magnetic resonance spectroscopy (MRS). Gyrate atrophy of choroid and retina represents an additional condition that may be added on to the CDSs because Cr deficiency is part of its clinical consequences. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1140315802 ER -