In phenylketonuria the body is unable to make phenylalanine from other amino acids. A small quantity is required to ensure normal growth. The diet of an affected child is carefully controlled so that only the small amounts of phenylalanine necessary for growth is given. With a phenylalanine-restricted diet PKU children develop normally. Inheritance patterns Autosomal recessive.
Genetic advice is available for families with the condition.
Pre-natal diagnosis May be available by chorionic villus sampling in families already studied. Neonatal testing using the Guthrie test or other screening test on blood is performed routinely on newborn babies. The Society is a National Registered Charity No. 273670 formed in 1973 by five families. Contact a Family is a UK charity which helps families who care for children with any disability or special need. We are a main source of information about rare disorders and are able to assist affected adults as well as children.