Wilson’s disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?
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Wilson’s disease (WD) is an autosomal recessive disorder of copper transport, related to mutations of the ATP7B gene (McKusick 277900). Here we report a new case of WD in which a rare mutation, Leu492Ser expressed for the first time in homozygosity, is associated with neurological presentation of the disease and arylsulfatase A pseudeficiency.
Key wordsWilson’s disease Leu492Ser Arylsulfatase A pseudodeficiency
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