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J Med Genet. 1994 May; 31(5): 360–363.
PMCID: PMC1049865

Aspartylglucosaminuria in northern Norway: a molecular and genealogical study.


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 (AGUFin) and show the polymorphism uniquely associated with AGUFin 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 AGUFin in northern Norway.

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Selected References

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  • Pollitt RJ, Jenner FA, Merskey H. Aspartylglycosaminuria. An inborn error of metabolism associated with mental defect. Lancet. 1968 Aug 3;2(7562):253–255. [PubMed]
  • Makino M, Kojima T, Ohgushi T, Yamashina I. Studies on enzymes acting on glycopeptides. J Biochem. 1968 Feb;63(2):186–192. [PubMed]
  • Aronson NN, Jr, Kuranda MJ. Lysosomal degradation of Asn-linked glycoproteins. FASEB J. 1989 Dec;3(14):2615–2622. [PubMed]
  • Fisher KJ, Tollersrud OK, Aronson NN., Jr Cloning and sequence analysis of a cDNA for human glycosylasparaginase. A single gene encodes the subunits of this lysosomal amidase. FEBS Lett. 1990 Sep 3;269(2):440–444. [PubMed]
  • Ikonen E, Baumann M, Grön K, Syvänen AC, Enomaa N, Halila R, Aula P, Peltonen L. Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease. EMBO J. 1991 Jan;10(1):51–58. [PubMed]
  • Park H, Fisher KJ, Aronson NN., Jr Genomic structure of human lysosomal glycosylasparaginase. FEBS Lett. 1991 Aug 19;288(1-2):168–172. [PubMed]
  • Syvänen AC, Ikonen E, Manninen T, Bengtström M, Söderlund H, Aula P, Peltonen L. Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland. Genomics. 1992 Mar;12(3):590–595. [PubMed]
  • Fisher KJ, Aronson NN., Jr Characterization of the mutation responsible for aspartylglucosaminuria in three Finnish patients. Amino acid substitution Cys163----Ser abolishes the activity of lysosomal glycosylasparaginase and its conversion into subunits. J Biol Chem. 1991 Jun 25;266(18):12105–12113. [PubMed]
  • Ikonen E, Enomaa N, Ulmanen I, Peltonen L. In vitro mutagenesis helps to unravel the biological consequences of aspartylglucosaminuria mutation. Genomics. 1991 Sep;11(1):206–211. [PubMed]
  • Borud O, Torp KH. Letter: Aspartylglycosaminuria in Northern Norway. Lancet. 1976 May 15;1(7968):1082–1083. [PubMed]
  • Nilssen O, Tollersrud OK, Borud O, Tranebjaerg L. A simple and rapid PCR based method for AGU(Fin) determination. Hum Mol Genet. 1993 Apr;2(4):484–484. [PubMed]
  • Autio S. Aspartylglycosaminuria. Analysis of thirty-four patients. J Ment Defic Res. 1972;1(0):1–93. [PubMed]
  • Nylander PO, Beckman L. Population studies in northern Sweden. XVII. Estimates of Finnish and Saamish influence. Hum Hered. 1991;41(3):157–167. [PubMed]

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