Phenylketonuria – Do you know what it is?

At first sight, you cannot tell whether a person is affected by phenylketonuria. A phenylketonuriac will not ask you for help when crossing a road or walking up stairs. And yet, those who suffer from hyperphenylketonuria type 1 are much more limited in their lives than it seems – the diet that they have to follow does not let them have almost anything on an ordinary menu.

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.

Articles within the field

  • 28. 6. 2008

    Living with Phenylketonuria

    Scene no.1 – Don Juan (Karel) goes back to the restaurant. The waiter is bringing penne with chicken meat, cream and broccoli. Just behind him is another waiter with an apple and carrot salad and chips with ketchup.

Created: 13. May 2008 | Updated: 13. May 2008

Lifelong Diet

Phenylanine is present in all types of proteins. The diet, therefore must be based on nutrition which limits the intake of proteins. The lack of proteins then must be substituted by an artificial mixture of essential amino acids without phenylanine enriched with trace elements and vitamins. The allowed amount of natural proteins is individual and it changes with age. This is why the disease must be monitored throughout the whole life. If the strict diet, set by a doctor from the centre of metabolic disorders, is not followed, the brain can be endangered at any age and the person can become mentally retarded, or affected by microcephaly or in the extreme cases even by oligophreny.