In order to be diagnosed with<unk>  an individual takes a urine test, which will show indication of an increased amount of aspartylglucosamin being secreted. The confirmation of the diagnosis of<unk>  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<unk> , they have the option to observe the enzyme's activity that codes for<unk>  in future pregnancy, to help determine if the next child will also have a positive diagnosis for<unk> .
Aspartylglucosaminuria
Hawkinsinuria
Alkaptonuria
Essential fructosuria
Orotic aciduria
Cystathioninuria
Dicarboxylic aminoaciduria
Urocanic aciduria