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Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene.

Bekri S, Armana G, De Ricaud D, Osenda M, Maire I, Van Obberghen E, Froissart R

Department of Biochemistry, Centre Hospitalier Universitaire de Nice, Nice, France. bekri.s@chu-nice.fr

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).

Published 19 May 2005 in J Inherit Metab Dis, 28(4): 601-2.
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