Aspartylglucosaminuria (AGU, McKusick 208400) is an autosomal recessive lysosomal storage disorder. Ninety percent of all patients are from Finland and only sporadic cases have been reported from elsewhere. In northern Norway, however, nine patients from seven families have been diagnosed with AGU. All these Norwegian patients were homozygous for the most prevalent Finnish AGU mutation (AGU(Fin)) and show the polymorphism uniquely associated with AGU(Fin) in Finland. Genealogical investigation of nine parents proved Finnish ancestry in all pedigrees. Therefore, AGU in Norway most likely resulted from immigration of Finnish carriers. These Finnish immigrants originated mostly from the Tornio valley area in northern Finland in a continuous immigration movement from 1700 to 1900. The majority settled in the western part of northern Norway, leading to a ''cluster'' of AGU in that particular area. The Finnish immigrants. intermixed considerably with Lapps and these two ethnic origins should thus be considered as high risk groups for AGU(Fin) in northern Norway.

Journal Article A simple and rapid PCR based method for AGUFin determination Get access Øivind Nilssen, Øivind Nilssen * Polar Institute of Medical Genetics, University of TromsøN-9038 Tromsø, Norway * To whom correspondence should be addressed Search for other works by this author on: Oxford Academic PubMed Google Scholar Ole Kristian Tollersrud, Ole Kristian Tollersrud 1Department of Clinical Chemistry, Regional Hospital and University of TromsøN-9038 Tromsø, Norway Search for other works by this author on: Oxford Academic PubMed Google Scholar Olav Borud, Olav Borud 1Department of Clinical Chemistry, Regional Hospital and University of TromsøN-9038 Tromsø, Norway Search for other works by this author on: Oxford Academic PubMed Google Scholar Lisbeth Tranebjærg Lisbeth Tranebjærg Polar Institute of Medical Genetics, University of TromsøN-9038 Tromsø, Norway Search for other works by this author on: Oxford Academic PubMed Google Scholar Human Molecular Genetics, Volume 2, Issue 4, April 1993, Page 484, https://doi.org/10.1093/hmg/2.4.484 Published: 01 April 1993 Article history Received: 05 February 1993 Accepted: 05 February 1993 Published: 01 April 1993