Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation

Clin Genet. 1997 Mar;51(3):174-8. doi: 10.1111/j.1399-0004.1997.tb02448.x.


Aspartylglucosaminuria (AGU) is a lysosomal storage disease caused by deficiency of aspartylglucosaminidase. The disease is overrepresented in the Finnish population, in which one missense mutation (Cys163Ser) is responsible for 98% of the disease alleles. The few non-Finnish cases of AGU which have been analyzed at molecular level have revealed a spectrum of different mutations. Here, we report two new missense mutations causing AGU in two Canadian siblings. The patients were compound heterozygotes with a G299-->A transition causing a Gly100-->Gln substitution and a T404-->C transition resulting in a Phe135-->Ser change in the cDNA coding for aspartylglucosaminidase. The younger patient recently underwent bone marrow transplantation.

Publication types

  • Case Reports

MeSH terms

  • Acetylglucosamine / analogs & derivatives*
  • Acetylglucosamine / urine
  • Aspartylglucosaminuria*
  • Aspartylglucosylaminase / genetics*
  • Bone Marrow Transplantation / methods*
  • Canada
  • Female
  • Humans
  • Infant, Newborn
  • Lysosomal Storage Diseases / genetics*
  • Lysosomal Storage Diseases / therapy
  • Lysosomal Storage Diseases / urine
  • Pedigree
  • Point Mutation*
  • Sequence Analysis, DNA


  • N-acetylglucosaminylasparagine
  • Aspartylglucosylaminase
  • Acetylglucosamine