Cerebral creatine deficiency syndrome

Definition

Cerebral creatine deficiency syndrome (CCDS) is a group of inborn errors of creatine metabolism, that includes X-linked creatine deficiency syndrome (CCDS1), guanidinoacetate methyltransferase deficiency (CCDS2), and arginine:glycine amidinotransferase deficiency (CCDS3). Intellectual disability and seizures are common to all three disorders. CCDS1 is the creatine transporter (SLC6A8) deficiency. CCDS2 and CCDS3 are creatine biosynthesis disorders and inherited in an autosomal recessive manner.

References:

[1]. Olivier Braissant, et al. Dissociation of AGAT, GAMT and SLC6A8 in CNS: relevance to creatine deficiency syndromes. Neurobiol Dis. 2010 Feb;37(2):423-33. [Content Brief]

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