aspartylglucosaminuria

No treatment is available to cure or slow down the progression of aspartylglucosaminuria.

At birth, there is no signs that a child will develop symptoms of Aspartylglucosaminuria.

This disease isn't contagious therefore you cannot not catch aspartylglucosaminuria.

The confirmation of the diagnosis of aspartylglucosaminuria requires the individual to take a blood test.

Levels are elevated in aspartylglucosaminuria.

In order to develop aspartylglucosaminuria, the individual must inherit changes in both of their AGU genes (autonomic recessive inheritance).

Since ear infections and respiratory infections are common for children diagnosed with aspartylglucosaminuria, it is best to have regular check ups for both the ears and the respiratory tract.

Extreme sensitivity to the sun's rays may develop and the best way to protect an individual diagnosed with aspartylglucosaminuria is to have them wear sunglasses, hats or caps to protect their eyes.

Yoshida (1991) and Vargas-Diez et al. (2002) also described the occurrence of angiokeratoma corporis diffusum in 2 Japanese patients and 1 Spanish patient, respectively, with aspartylglucosaminuria.

Even though this disease can occur in various races and ethnicities, another study made 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 of aspartylglucosaminuria.

AGA AGU Aspartylglucosaminuria Aspartylglucosaminidase Deficiency Glycosylasparaginase Deficiency None 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.

When families have a child that 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.