Children affected by Aspartylglucosaminuria have difficulty breaking down specific sugar complexes attached to certain proteins due to a problem in the recycling structres in cells. Symptoms typically present around age 2 or 3 and usually include delayed speech followed by a progressive decline of intellectual abilities and the loss of developmental milestones. Additional symptoms may include seizures, movement problems, weak bones that are prone to fracture, loose skin, characteristic facial features, and rheumatoid arthritis. Aspartylglucosaminuria is a life limiting disease. Treatment is focused on managing the individual's symptoms.
As humans we have about 23,000 genes. These genes are like tiny instruction manuals that influence our health, growth and development. We inherit half of our genes from our biological mum and the other half from our biological dad. These genes are lined up on structures called chromosomes. Most of us have 23 pairs of chromosomes. The first 22 pairs are called autosomes and for the most part - these are the same among men and women. The 23rd pair determine our sex - two X chromosomes for a female and one X and one Y chromosome for males.
Carrier testing is like a checkup for your genes. It tests to see if you carry a gene variation that could cause a serious genetic disease in your child. Eugene offers an inclusive genetic carrier screening panel that includes Aspartylglucosaminuria, but there's a total 301 conditions that can be tested.
Eugene’s carrier test is a clinical grade test that can be done from the comfort of your own home — it’s just a saliva test. You're also paired with a genetic counsellor who provides mindful support and guidance every step of the way.Learn more about carrier screening
The biggest benefit of screening for Aspartylglucosaminuria is that it can help future parents understand their reproductive risk so they can be ready and empowered to make more informed decisions. If neither partner are carriers, it provides reassurance and peace of mind that the risk of having a child with a genetic disease is low.