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guanidinoacetate methyltransferase deficiency (GAMT deficiency)
Pathology:
- severe depletion of creatine/phosphocreatine in the brain
- accumulation of guanidinoacetic acid in brain & body fluids
Genetics:
- autosomal recessive
- associated with defects in GAMT are the cause of guanidinoacetate methyltransferase deficiency
Clinical manifestations:
- developmental delay/regression
- mental retardation
- severe disturbance of expressive & cognitive speech
- intractable seizures
- movement disturbances
General
inborn error of metabolism
Database Correlations
OMIM 612736
References
OMIM :accession 612736