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.
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.
CLIMB (Children Living with Inherited Metabolic Diseases)
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NIH/National Institute of Diabetes, Digestive & Kidney Diseases
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International Advocate For Glycoprotein Storage Diseases
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Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
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Instituto de Errores Innatos del Metabolismo
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PO Box 241956
Los Angeles, CA 90024
Hide & Seek Foundation for Lysosomal Disease Research
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Long Beach, CA 90803
Rare Trait Hope Fund
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Belle Chasse, LA 70037
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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.
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Last Updated: 3/2/2008
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