FREQUENTLY ASKED QUESTIONS

FAQ

FREQUENTLY ASKED QUESTIONS

What is PKU?
The acronym PKU stands for phenylketonuria. It is an inborn metabolic disorder that affects the breakdown of proteins ingested with food. People with PKU cannot break down the protein building block known as phenylalanine. This condition is caused by a malfunction of the enzyme called phenylalanine hydroxylase (PAH), which is normally responsible for converting phenylalanine to another amino acid called tyrosine. When people with PKU eat a normal diet, high levels of phenylalanine accumulate in their bodies. If this is not treated, it leads to problems in the development of the brain and to irreversible physical and mental disabilities.
How is PKU diagnosed?
In the early 1960s, the American Robert Guthrie developed a test for the early detection of phenylketonuria. This test has been an integral part of neonatal screening in Switzerland since 1965. It is carried out in the first few days after birth by taking a blood sample from the infant.
Is PKU curable?
PKU is an inherited genetic disorder and is not curable. However, with a strictly maintained low-phenylalanine diet that is started early, the phenylalanine levels in the blood can be controlled so that the physical and mental development of a child with PKU is not impaired. Persons with PKU must maintain the low-protein diet throughout their lives.
What foods can I eat?

Persons with PKU have to eat foods in which the amount of protein has been reduced to the point that it contains only as much phenylalanine as the metabolism of the affected person can break down. Further information is available from the Oase Advisory Service.

Where can I buy low-Phe food?

We have put together a list of several companies and suppliers.

How do I prevent malnutrition?
To ensure that the low-protein diet does not result in deficiencies, the diet is supplemented with a phenylalanine-free mixture of amino acids (amino acid substitution) that also includes vitamins, minerals and trace elements. Thus the protein requirements are met while dangerous build-up of phenylalanine is prevented. The dietary supplements also contain important vitamins, minerals and trace elements. It is also important to monitor the development of the child on a continuous basis and to carry out regular blood tests to check the phenylalanine levels. This ensures that the diet is continuously adapted to the needs of the growing child. Under these conditions, children with PKU will enjoy excellent physical and mental health as they develop.
Where can I get information about PKU?

Here on the Swiss PKU website you’ll find an abundance of valuable information about PKU and on how to handle this disorder. You’ll want to explore the download area, too.

The Oase Advisory Service, which is affiliated with Swiss PKU, offers personalised, expert counselling on PKU. Cäcilia Smith is a dietician and the person in charge of Oase. She has an open ear for any and all questions regarding PKU and is also bound by the ethical standards and confidentiality obligation of her profession.

How many people are affected?
Of the 82,000 children born in Switzerland annually, four to five are born with PKU (approximately 0.006%).
Is it possible to live a normal life with PKU?

Handling PKU successfully requires a lot of effort and numerous restrictions (special diet, blood tests, etc.). Rigorous compliance with the diet and the regular blood tests mean you will remain free of physical symptoms, but of course this is a massive impairment of your quality of life. However, affected children and their parents and siblings can certainly learn to integrate the restrictions accompanying the diet in their daily lives. This facilitates the normal mental and social development of the children as well, as shown by a Swiss study of children and adolescents with PKU.

Which physicians are specialised in treating PKU?
What do I need to know about health insurance and cost coverage?

The Oase Advisory Service (Cäcilia Smith) offers persons with PKU assistance with questions and problems concerning health insurance and disability insurance.

How can I get in touch with other people affected by PKU?
  • You can get to know others affected by PKU at our events including the children’s camp, cookery courses, meetings, informational events, etc.
  • Membership
  • The Oase Advisory Service (Cäcilia Smith) can put you in touch with other persons living with PKU.
What does Swiss PKU do in concrete terms for those living with PKU?
  • Media reports on PKU
  • Further information/News
  • Interesting links
  • New laws
  • Informational material to download

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