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

J Inherit Metab Dis. 2005;28(4):601-2. doi: 10.1007/s10545-005-0601-0.

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).

Publication types

  • Case Reports

MeSH terms

  • Codon, Nonsense*
  • Echocardiography
  • Female
  • Hepatomegaly / diagnosis
  • Hepatomegaly / genetics
  • Humans
  • Infant
  • Mucopolysaccharidosis III / diagnosis*
  • Mucopolysaccharidosis III / genetics*
  • Mutation, Missense*
  • Piperazines / pharmacology
  • Purines
  • Sildenafil Citrate
  • Splenomegaly / diagnosis
  • Splenomegaly / genetics
  • Sulfatases / deficiency*
  • Sulfatases / genetics*
  • Sulfones
  • Time Factors
  • Vasodilator Agents / pharmacology

Substances

  • Codon, Nonsense
  • Piperazines
  • Purines
  • Sulfones
  • Vasodilator Agents
  • Sildenafil Citrate
  • Sulfatases
  • heparan sulfate sulfatase