Why purine metabolic patients?
No, not so far. A few can be treated, if diagnosed early enough, but many disorders remain crippling or potentially fatal. Where the tendency in the family is known, (often it is not), prenatal testing is possible. Patients can be helped by various means to live with their disability, but there is a family where all three sons have died, others have lost five close relatives, others where babies have had to be nursed in a ‘bubble’ and children who will never walk or talk and may die young. More research is badly needed.
