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Guanidinoacetate methyltransferase deficiency MeSH Supplementary Concept Data 2025


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 Preferred
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