What is phenylketonuria?

In 1978, the chemist Dr. Schircks made his big breakthrough. The Swiss was the first to develop the active substance sapropterin dihydrochloride. With this, he gave those affected the chance of effective treatment.

To further support patients, Dipharma S.A. further developed sapropterin dihydrochloride with Dr Schircks: Now available in the UK as Sapropterin Dihydrochloride (LogixX). Phenylketonuria (PKU) is a rare, inherited metabolic disorder. The body absorbs the amino acid phenylalanine (Phe) through food and can no longer convert it completely into the amino acid tyrosine (Tyr). The defective “motor” enzyme phenylalanine hydroxylase (PAH) is responsible for this. The defect prevents the motor from interacting with the fuel tetrahydrobiopterin (BH4). Motor and fuel are necessary for Phe to be converted into Tyr.

Illustrative comparison of the enzyme PAH function in persons without PKU, with PKU, and under therapy with sapropterin dihydrochloride, highlighting how the treatment helps convert Phenylalanine (Phe) to Tyrosine (Tyr).

The consequences of phenylketonuria

The consequence is an excessive, unhealthy level of Phe in the blood and brain, which is known as hyperphenylalaninaemia (HPA). Without lifelong therapy, there is a risk of serious damage to health. Fortunately, PKU can now be reliably detected in newborns. In some patients, the active substance sapropterin dihydrochloride can kick start the motor and supports the conversion of Phe to Tyr.

What can PKU patients eat?

A sensible diet and healthy lifestyle are important for everyone. Our food contains valuable carbohydrates, fats, proteins, vitamins and minerals. They ensure healthy growth and maintain body function.

The traffic light system gives you a sense of which foods PKU patients can eat or should rather avoid. This overview does not replace a diet plan.

List of foods to avoid for children on a PKU diet, including meat, sausages, chicken, nuts, and dairy products, marked with a red banner to indicate these are unsuitable foods.
List of conditionally suitable foods for a PKU diet, including potatoes, various vegetables, and rice, marked with a yellow banner to indicate moderation in consumption.
List of PKU-friendly foods suitable for children, including apple puree, cucumbers, carrots, and low-protein bread, with a green banner indicating safety in consumption.
All products of Sapropterin LogixX powder for PKU treatment, highlighting the fine texture and quality.

Starting therapy with saproterin dihydrochloride

Doctors will explain the therapy with sapropterin dihydrochloride to you in detail at the beginning. In addition, the Phe blood level is measured regularly. If patients have too little or too much Phe in the blood, the doctor or dietician will adjust the dose of sapropterin dihydrochloride.

Patients will start with a low-protein diet. The protein from food contains large amounts of Phe, which the body does not metabolise. Doctors and dieticians will draw up a diet plan for patients.