AGU was first reported in 1968 in England. AGU cases have been documented throughout the world and across ethnicities, races, heritages, and geographies including North America, Europe, Asia, and the Middle East with the highest known prevalence in Finland.²

Places Reported to Include People Diagnosed with AGU (1975 – 2019):

  1. Lokko, H. N., & Stern, T. A. (2015). Regression: Diagnosis, evaluation, and management. The Primary Care Companion for CNS Disorders, 17(3). Retrieved June 5, 2019 from link.
  2. Arvio, M., & Mononen, I. (2016). Aspartylglycosaminuria: a review. Orphanet Journal of Rare Diseases, 11(162). Retrieved June 5, 2019 from link.

Additional Sources:

  1. Aronson, N. N. (1999). Aspartylglycosaminuria: Biochemistry and molecular biology. Biochimica Et Biophysica Acta, 1455(2-3), 139-154. Retrieved June 5, 2019 from link.
  2. ASPARTYLGLUCOSAMINIDASE; AGA. (2010, January 21). Retrieved June 5, 2019 from link.
  3. Arvio, P., & Arvio, M. (2002). Progressive nature of aspartylglucosaminuria. Acta Paediatrica, 91(3), 255-257. Retrieved June 5, 2019 from link.
  4. Gordon, B. A., Rupar, C. A., Rip, J. W., Haust, M. D., Coulter-Mackie, M. B., Scott, E., & Hinton, G. G. (1998). Aspartylglucosaminuria in a Canadian family. Clinical and Investigative Medicine, 21(3), 114-123. Retrieved June 5, 2019 from link.
  5. Zlotogora, J., Ben-Neriah, Z., Abu-Libdeh, B. Y., Sury, V., & Zeigler, M. (1997). Aspartylglucosaminuria among Palestinian Arabs. Journal of Inherited Metabolic Disease, 20(6), 799-802. Retrieved June 5, 2019 from link.
  6. Chitayat, D., Nakagawa, S., Marion, R. W., Sachs, G. S., Hahm, S. Y., & Goldman, H. S. (1988). Aspartylglucosaminuria in a Puerto Rican family: Additional features of a panethnic disorder. American Journal of Medical Genetics, 31(3), 527-532. Retrieved June 5, 2019 from link.
  7. Hreidarsson, S., Thomas, G. H., Valle, D. L., Stevenson, R. E., Taylor, H., McCarty, J., . . . Green, W. R. (1983). Aspartylglucosaminuria in the United States. Clinical Genetics, 23(6), 427-435. Retrieved June 5, 2019 from link.
  8. Vargas-Díez, E., Chabás, A., Coll, M. J., Sánchez-Pérez, J., García-Díez, A., & Fernández-Herrera, J. M. (2002). Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria. British Journal of Dermatology, 147(4), 760-764. Retrieved June 5, 2019 from link.
  9. Laitinen, A., Hietala, M., Haworth, J. C., Schroeder, M. L., Seargeant, L. E., Greenberg, C. R., & Aula, P. (1997). Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation. Clinical Genetics, 51(3), 174-178. Retrieved June 5, 2019 from link.
  10. Fisher, K. J., & Aronson, N. N. (1991). Deletion of exon 8 causes glycosylasparaginase deficiency in an African American aspartylglucosaminuria (AGU) patient. FEBS Letters, 288(1-2), 173-178. Retrieved June 5, 2019 from link.
  11. Saarela, J., Von Schantz, C., Peltonen, L., & Jalanko, A. (2004). A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase. Human Mutation, 24(4), 350-351. Retrieved June 5, 2019 from link.
  12. Labate, A., Barone, R., Gambardella, A., Civitelli, D., Fiumara, A., Annesi, G., . . . Quattrone, A. (2004). Startle epilepsy complicating aspartylglucosaminuria. Brain and Development, 26(2), 130-133. Retrieved June 5, 2019 from link.
  13. Gehler, J., Sewell, A. C., Becker, C., Hartmann, J., & Spranger, J. (1981). Clinical and biochemical delineation of aspartyl-glycosaminuria as observed in two members of an Italian family. Helvetica Paediatrica Acta, 36(2), 179-89. Retrieved June 5, 2019 from link.
  14. Park, H., Vettese, M. B., Fensom, A. H., Fisher, K. J., & Aronson, N. N. (1993). Characterization of three alleles causing aspartylglycosaminuria: Two from a British family and one from an American patient. Biochemical Journal, 190(3), 735-741. Retrieved June 5, 2019 from link.
  15. Guy, R., Forsyth, J. M., Cooper, A., & Morton, R. E. (2001). Co-existence of lysosomal storage diseases in a consanguineous family. Child: Care, Health and Development, 27(2), 173-181. Retrieved June 5, 2019 from link.
  16. Evers, L. J., Schrander-Stumpel, C. T., Engelen, J. J., Mulder, H., Borghgraef, M., & Fryns, J. P. (1993). Terminal deletion of long arm of chromosome 4: Patient report and literature review. Journal of Genetic Counseling, 4(2), 139-145. Retrieved June 5, 2019 from link.
  17. Ziegler, R., Schmidt, H., Sewell, A. C., Weglage, J., Von Lengerke, J. H., & Ullrich, K. (1989). [Aspartylglucosaminuria. Clinical description of 2 German patients]. Monatsschrift Kinderheilkunde, 137(8), 454-457. Retrieved June 5, 2019 from link.
  18. Borud, O., Strömme, J. H., Lie, S. O., & Torp, K. H. (1978). Aspartylglycosaminuria in Northern Norway in eight patients: Clinical heterogeneity and variations with the diet. Journal of Inherited Metabolic Disease, 1(3), 95-97. Retrieved June 5, 2019 from link.
  19. Opladen, T., Ebinger, F., Zschocke, J., Sengupta, D., Ben-Omran, T., Shahbeck, N., . . . Hoffmann, G. F. (2014). Aspartylglucosaminuria: Unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family. Journal of Child Neurology, 29(1), 36-42. Retrieved June 5, 2019 from link.
  20. Musumeci, S., Salvati, A., Schiliró, G., Salvo, G., Di Dio, R., & Caprari, P. (1984). Homozygous NADH-methemoglobin reductase and aspartylglucosaminidase deficiencies in a moderately retarded Sicilian child. American Journal of Medical Genetics, 19(4), 643-650. Retrieved June 5, 2019 from link.
  21. Emre, S., Terzioğlu, M., Coşkun, T., Tokath, A., Ozalp, I., Müller, V., & Hopwood, J. (2002). Biochemical and molecular analysis of mucopolysaccharidoses in Turkey. The Turkish Journal of Pediatrics, 44(1), 13-17. Retrieved June 5, 2019 from link.
  22. Yoshida, K. (1993). Molecular analysis of the aspartylglucosaminidase gene in Japanese patients with aspartylglucosaminuria. Journal of Japan Surgical Association, 51(9), 2308-2313. Retrieved June 5, 2019 from link.