Cerebral Creatine Deficiency Syndrome 2

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive disorder of creatine synthesis caused by mutations(s) in the GAMT gene on chromosome 19p13, encoding guanidinoacetate N-methyltransferase. It is characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures and movement disturbances, severe depletion of creatine/phosphocreatine in the brain, and accumulation of guanidinoacetic acid (GAA) in brain and body fluids.

**Synonyms:** - CCDS2 - Guanidinoacetate Methyltransferase Deficiency