Diseases & Conditions


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Aspartylglycosaminuria


Synonyms of Aspartylglycosaminuria
  • AGA
  • AGU
  • Aspartylglucosaminidase Deficiency
  • Aspartylglucosaminuria
  • Glycosylasparaginase Deficiency

Disorder Subdivisions



    General Discussion
    Aspartylglycosaminuria is a very rare genetic disorder that is concentrated among persons of Finnish decent, but is also found, even more rarely, in other populations around the world. It is an inborn error of metabolism, and one of the lysosomal storage diseases. It becomes apparent after the infant is a few months old. Major symptoms may include coarse facial features, spine and eye deformities, behavior problems and mental retardation. Aspartylglycosaminuria occurs as a result of deficient activity of a particular enzyme, leading to the accumulation of metabolic products in the body.

    Organizations related to Aspartylglycosaminuria
    • CLIMB (Children Living with Inherited Metabolic Diseases)
      Climb Building
      Crewe Intl CW2 6BG
      Phone #: +44- 87-0 7700 325
      800 #: --
      e-mail: info@climb.org.uk
      Home page: http://www.CLIMB.org.uk
    • Hide & Seek Foundation for Lysosomal Disease Research
      4123 Lankershim Blvd.
      North Hollywood CA 91602-2828
      Phone #: 818-762-8621
      800 #: N/A
      e-mail: info@hideandseek.org
      Home page: http://www.hideandseek.org
    • Instituto de Errores Innatos del Metabolismo
      Carrera 7 No 43-82
      S.A. Edificio 53 Lab. 305A None None
      Phone #: 50 -1 3-208320
      800 #: N/A
      e-mail: abarrera@javeriana.edu.co
      Home page: http://www.javeriana.edu.co
    • International Society for Mannosidosis & Related Diseases, Inc.
      1030 Saxon Hill Drive
      Cockeysville MD 21030
      Phone #: 410-628-9991
      800 #: N/A
      e-mail: pres@mannosidosis.org
      Home page: http://www/mannosidosis.org
    • Madisons Foundation
      PO Box 241956
      Los Angeles CA 90024
      Phone #: 310-264-0826
      800 #: N/A
      e-mail: getinfo@madisonsfoundation.org
      Home page: http://www.madisonsfoundation.org
    • NIH/National Institute of Diabetes, Digestive & Kidney Diseases
      Endocrine Diseases Metabolic Diseases Branch
      Bethesda MD 20892-3570
      Phone #: 301-654-3810
      800 #: --
      e-mail: NDDIC@info.niddk.nih.gov
      Home page: http://www.niddk.nih.gov
    • National MPS (Mucopolysaccharidoses/Mucolipidoses) Society, Inc.
      PO Box 14686
      Durham NC 27709-4686
      Phone #: 919-806-0101
      800 #: --
      e-mail: info@mpssociety.org
      Home page: http://www.mpssociety.org



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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