Guanidinoacetate methyltransferase deficiency [Supplementary Concept]
A hereditary autosomal recessive error of CREATINE synthesis characterized by language development disorders, DEVELOPMENTAL DISABILITIES; INTELLECTUAL DISABILITY; SEIZURES; ATAXIA; MUSCLE SPASTICITY, severe depletion of creatine/PHOSPHOCREATINE in the brain, and accumulation of guanidinoacetic acid (GAA) in brain and body fluids. Mutations in the GAMT gene have been identified. OMIM: 612736
Date introduced: August 25, 2010
MeSH Unique ID: C537622
Heading Mapped to:
Entry Terms:
- Creatine Deficiency Syndrome Due To Gamt Deficiency
- GAMT Deficiency