When a person receives one changed form of the gene AGU from one of the parents, the individual is then classified as a carrier. Diagnosis
In order to be diagnosed with AGU an individual takes a urine test, which will show indication of an increased amount of aspartylglucosamin being secreted. The confirmation of the diagnosis of aspartylglucosaminuria requires a blood test. This helps show if the enzyme aspartylglucosaminidase is present or partially absent. A skin simple will also show the amount of aspartylglucosaminidase present. Pre-natal diagnosis
When families have a child who has already been diagnosed with AGU, they have the option to observe the enzymes activity that codes for AGU in future pregnancy, to help determine if the next child will also have a positive diagnosis for aspartylglucosaminuria. Treatment
No treatment is available to cure or slow down the progression of aspartylglucosaminuria. Bone marrow transplants have been conducted in hope that the bone marrow will produce the missing enzyme. The results of the tests thus far have shown to be inconclusive.
Epidemiology
Aspartylglucosaminuria is estimated to affect 1 in 18,500 people in Finland. This condition is less common in other countries, but the incidence is unknown. Even though this disease can occur in various races and ethnicities, another study  backed this finding up by stating that 1 in 26,000 people in Finland had the disease and that 1 in 18,000 were carriers.After trisomy 21 and fragile X syndrome, this is the most frequent multiple congenital anomaly/intellectual disability syndrome in Finland. See also
Inborn error of metabolism

References
External links
Aspartylglycosaminuria at NIHs Office of Rare Diseases