Can a prospective partner be tested for the faulty PKU gene?
Those who have PKU, or who are likely to possess the faulty gene for PKU (brothers and sisters of a person with PKU), would probably feel more comfortable about having children if there was a way of testing their partner for the presence or absence of the faulty gene. Phenylalanine load test give an answer in 80 – 90% of cases. Some families know the mutations that cause PKU in their children. If that is the case other family members can have a DNA test, after talking with a geneticist or genetic counsellor. Anyone wanting more information should discuss this with their PKU clinic team, or an expert in genetic counselling. Prenatal diagnosis and treatment of PKU In a family who already has one or more children with PKU it is possible to make the diagnosis in the foetus before birth. Should you wish to know more as you PKU clinic doctor. Remember PKU can be satisfactorily treated with a low phenylalanine diet started soon after birth.
