guanidinoacetate methyltransferase deficiency (GAMT deficiency)
Jump to navigation
Jump to search
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