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.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C53 Inborn errors of energy metabolism
H00849 Cerebral creatine deficiency syndrome
Pathway-based classification of diseases [BR:br08402]
Amino acid metabolism
nt06033 Glycine, serine and arginine metabolism
H00849 Cerebral creatine deficiency syndrome