Aspartylglucosaminuria


Aspartylglucosaminuria is an autosomal recessive disorder of lysosomal storage caused by a mutation in the AGA gene which codes for N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase. A deficiency in this enzyme results in accumulation of aspartylglycosamine and oligosaccharides in urine. Symptoms, which present in childhood, include skeletal changes, speech abnormalities, macroglossia, and mental retardation. Treatment includes bone marrow transplants.

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References

  1. Engelke, U.F.H., S.H. Moolenaar, S.M.G.C. Hoenderop, E. Morava, M. van der Graaf, A. Heerschap and R.A. Wevers. 2007. Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy. SPS Publications,The Netherlands.
  2. Uniprot: P20933
  3. OMIM: Entry 208400
  4. Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K. Population Structure and Genetic Disorders. (pp 577-582) New York: Academic Press 1980.
  5. Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (pp 31) (2nd ed). Heilbronn: SPS Verlagsgesellschaft
  6. Gehler J, Sewell AC, Becker C, Hartmann J, Spranger J: Clinical and biochemical delineation of aspartyl-glycosaminuria as observed in two members of an Italian family. Helv Paediatr Acta. 1981;36(2):179-89. Pubmed
  7. Gehler J, Sewell AC, Becker C, Spranger J, Hartmann J: Aspartylglycosaminuria in an Italian family: clinical and biochemical characteristics. J Inherit Metab Dis. 1981;4(4):229-30. Pubmed
  8. Gonzalez-Gomez I, Mononen I, Heisterkamp N, Groffen J, Kaartinen V: Progressive neurodegeneration in aspartylglycosaminuria mice. Am J Pathol. 1998 Oct;153(4):1293-300. Pubmed
  9. Ikonen E, Baumann M, Gron K, Syvanen 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):51-8. Pubmed
  10. Ikonen E, Peltonen L: Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease. Hum Mutat. 1992;1(5):361-5. Pubmed
  11. Saarela J, Laine M, Oinonen C, Schantz C, Jalanko A, Rouvinen J, Peltonen L: Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations. Hum Mol Genet. 2001 Apr 15;10(9):983-95. Pubmed