What is Homocystinuria?
Homocystinuria caused by cystathionine beta-synthase deficiency is a severe inherited disease mainly characterized by the multiple involvement of the eye, skeleton, central nervous system and vascular system. The age of onset is infantile.
Homocystinuria caused by cystathionine beta-synthase deficiency follows an autosomal recessive pattern of inheritance. A couple is at risk of having affected offspring only when both members are carriers of the disease. When both members are carriers, the risk of having an affected child is 1 out of every 4 children.
What is the next step if I’m a carrier of Homocystinuria?
If you are found to be a carrier of Homocystinuria, it is important that your partner be tested for the same genetic disorder.
What if my partner is not a carrier?
If your partner’s test for Homocystinuria is negative, the chance to have an affected child is low. However there is currently no test able to detect all existing mutations, so there is always a residual risk that the person who has done the test is a carrier of other less frequent mutations.
What if both me and my partner are carriers of Homocystinuria?
When both parents are carriers of Homocystinuria, the probability of having a child with this disease is 25%.
We recommend that you discuss your results with your doctor or genetic counselor in order to know more about reproductive options.