Aspartylglycosaminuria

Below you will find more information about Aspartylglycosaminuria from Medigest. If you believe that you are suffering from any of the symptoms of Aspartylglycosaminuria it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Aspartylglycosaminuria and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Aspartylglycosaminuria comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

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.

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.

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

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.

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