National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Aspartylglycosaminuria is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Synonyms Back to top
- Aspartylglucosaminidase Deficiency
- Glycosylasparaginase Deficiency
Disorder Subdivisions Back to top
General Discussion Back to top
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.
Resources Back to top
Children Living with Inherited Metabolic Diseases (CLIMB)
176 Nantwich Road
Crewe, Intl CW2 6BG
Tel: 0845 241 2174
Tel: 800 652 3181
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Office of Communications & Public Liaison
Bldg 31, Rm 9A06
31 Center Drive, MSC 2560
Bethesda, MD 20892-2560
International Advocate For Glycoprotein Storage Diseases
20880 Canyon View Drive
Saratoga, CA 95070
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Instituto de Errores Innatos del Metabolismo
Carrera 7 No 40 - 62
Tel: (571) 3208320
PO Box 241956
Los Angeles, CA 90024
Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach, CA 90803
For a Complete Report Back to top
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email firstname.lastname@example.org
Last Updated: 3/2/2008
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