Catalog

Guanidinoacetate methyltransferase deficiency

No MMS code

Link to WHO Definition

Guanidinoacetate methyltransferase deficiency – http://id.who.int/icd/entity/1811642217

Guanidinoacetate methyltransferase deficiency is an inborn error of creatine synthesis with variable clinical phenotype including a spectrum of neurological involvement from progressive extrapyramidal movement disorder and severe muscular hypotonia, to epilepsy and intellectual development disorder.