Creatine Deficiency Disorders

Abstract: The creatine deficiency disorders (CDDs), inborn errors of creatine metabolism and transport, comprise three disorders: the creatine biosynthesis disorders guanidinoacetate methyltransferase (GAMT) deficiency and L-arginine:glycine amidinotransferase (AGAT) deficiency; and creatine transporter (CRTR) deficiency. Developmental delay and cognitive dysfunction or intellectual disability and speech-language disorder are common to all three CDDs.

Link to article: https://www.ncbi.nlm.nih.gov/books/NBK3794/

Authors: Saadet Mercimek-Andrews, Gajja S Salomons

Key Terms: Multiple CCDS, Clinical Study, Cardiovascular symptoms (QTc), Pediatric Patient, Male Patient, GAMT, AGAT, CTD