2005•Journal of Inherited Metabolic DiseaseRequires access
Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene
Soumeya Bekri, G. Armana, Dominique De Ricaud, M. Osenda, I Maire, E Van Obberghen, Roseline Froissart
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Abstract
An early presentation of heparan N-sulphatase (SGSH) deficiency (mucopolysaccharidosis IIIA, MPS IIIA) with a prominent and isolated hepato-splenomegaly is described. Molecular analysis detected a nonsense mutation (Y40X) and two de novo missense mutations (E300V; Q307P).