Cerebral creatine deficiency
Cerebral creatine deficiencies (CCD's) are a small group of disorders mainly concerned with creatine biosynthesis and utilization in the brain at the blood-brain interface. The most common CCD is:
The two other forms of CCD are creatine enzymatic defects (CED's) in creatine biosynthesis, i.e. the enzyme deficiencies:
- L-arginine:glycine amidinotransferase deficiency, and
- guanidinoacetate methyltransferase deficiency.