Aspartylglucosaminuria in the United States

Clin Genet. 1983 Jun;23(6):427-35. doi: 10.1111/j.1399-0004.1983.tb01977.x.


Aspartylglucosaminuria (AGU) was diagnosed in two unrelated males with progressive mental retardation, coarse facies and skeletal abnormalities. Until now, this disorder has been described in predominantly Finnish populations with only one previous case reported in the U.S. We conclude that AGU may be more common in non-Finnish populations than the number of reported cases would indicate and should be included in the differential diagnosis in patients with suspected lysosomal storage disorders regardless of their geographical or ethnic backgrounds.

Publication types

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

MeSH terms

  • Adolescent
  • Amidohydrolases / deficiency*
  • Aspartylglucosaminuria*
  • Biopsy
  • Child
  • Conjunctiva / pathology
  • Fibroblasts / enzymology
  • Finland
  • Genes, Recessive
  • Humans
  • Intellectual Disability / genetics
  • Male
  • Metabolism, Inborn Errors / epidemiology*
  • Metabolism, Inborn Errors / genetics
  • United States


  • Amidohydrolases