1. Biology Dictionary
  2. Cerebral creatine deficiency syndrome

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.

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #