MeSH Browser

MeSH Supplementary: Guanidinoacetate methyltransferase deficiency
Unique ID: C537622
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537622
Entry Term(s): Creatine Deficiency Syndrome Due To Gamt Deficiency; GAMT Deficiency
Registry Numbers: 0
Heading Mapped to: *Language Development Disorders; Movement Disorders / congenital; Guanidinoacetate N-Methyltransferase / deficiency
Frequency: 43
Note: 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 of Entry: 2010/08/25
Revision Date: 2015/08/18

Guanidinoacetate methyltransferase deficiency MeSH Supplementary Concept Data 2025