Single base deletion in exon 7 of the glycosylasparaginase gene causes a mild form of aspartylglycosaminuria in a patient of Mauritian origin

J Inherit Metab Dis. 1996;19(1):76-83. doi: 10.1007/BF01799351.


Aspartylglycosaminuria (AGU) is a lysosomal storage disorder of glycoprotein degradation caused by deficiency of glycosylasparaginase (GA). A deletion mutation was found in a mildly affected AGU patient whose parents are first-cousins of Mauritian origin. One bp deletion at position 787 or 788 (delta T788) in exon 7 of the GA gene resulted in a frameshift and produced an immediate stop codon. The resulting truncated polypeptide was defective in its post-translational proteolytic processing and remained as a single chain (36 kDa) with no GA activity.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Acetylglucosamine / analogs & derivatives*
  • Acetylglucosamine / urine
  • Adolescent
  • Amino Acid Sequence
  • Aspartylglucosylaminase / genetics*
  • Base Sequence
  • Blotting, Western
  • Exons / physiology*
  • Humans
  • Lysosomal Storage Diseases / genetics*
  • Lysosomal Storage Diseases / urine
  • Male
  • Mauritania
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Protein Processing, Post-Translational / physiology


  • N-acetylglucosaminylasparagine
  • Aspartylglucosylaminase
  • Acetylglucosamine

Associated data

  • GENBANK/S83096