They cannot go with a friend for a beer and when they are hungry, they’d better not smell hamburger odours invading the whole street. A saying has it that love goes through the stomach. If this was true, phenylketonuriacs would be very limited in loving.
In our population, approximately one person in ten thousand is affected by phenylketonuria. It is an uncurable congenital metabolic disease caused by a deficiency in the enzyme phenylalanine hydroxylase in the liver. What is so serious about it? The body of the affected person is not able to process the aminoacid phenyllalanine. Its concentration increases, becomes poisonous and it damages the central nervous system. A healthy person can then become mentally retarded within a period of just a few months.
Since phenylketonuria can endamage the development of the central nervous system very quickly, it is extremely important to detect the disease as soon as possible. This is why tests are carried out on each new-born baby, from four to six days after the birth. It is diagnosed by means of capillary blood taken from the baby’s heel. It shows to what level phenylanine is present in blood. In case the results of the tests are on the borderline or beyond it, parents are immediately informed and invited to a metabolic disorders advisory clinic.
Not many people suffer from phenylketonuria. This, however, does not mean that we should not deal with this disorder. Every handicapped person deserves the help of those who can help. The aim of these pages is to make their lives easier (and not only for those who live in Prague) by gradually providing more and more information on the topic.