Aspartylglycosaminuria
Aspartylglycosaminuria Definition
An unusual genetic disorder resulted from a deficit of an enzyme glycoprotein (aspartylglucosaminidase). It is associated to a Finnish ailment heritage wherein a set of ailments results from a transformation in a single gene distinguished with elevated occurrence in Finland comparing to the rest of the world.
Aspartylglycosaminuria Epidemiology
Individuals who are affected by this disease earlier are from Finnish ancestry but later individuals that are affected with this disease came from other groups. This is the most recurrent multiple hereditary abnormality or mental retardation condition following trisomy 21 and fragile X syndrome.
Aspartylglycosaminuria Prevalence
The disease is classified as a ?rare disease? or ?unusual disease? according to the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). It indicates that Aspartylglycosaminuria it affects less than 200,000 individuals in the US population.
Aspartylglycosaminuria Symptoms and Signs
Here are the known sympyoms of Aspartylglycosaminuria: 1. Facial features are coarse 2. Malformation in the spine 3. Eye malformations 4. Behavioral troubles 5. Retardation mentally 6. Liver is bloated 7. Spleen is bloated 8. Nose is broad 9 Diarrhea 10. Increased urine aspartyglucosamine level