Phenylketonuria has the highest prevalence of all the metabolic diseases.

Although it is a rare disease, it is essential that patients with phenylketonuria should be treated as soon as a positive test result occurs.

When a newborn baby is diagnosed, the primary objective of management is to reduce the concentration of PHE in the blood to an acceptable level. A very reduced milk diet, complemented by products without PHE to supply the rest of the nutrients the body needs, is therefore essential for correct development. Changes in the amounts of PHE consumed are monitored very closely according to each patient’s needs.

It is advisable to continue the diet throughout the growth period, for the patient’s wellbeing.

Some specialists even recommend it should be continued throughout life.

To complement the diet, the level of PHE in the blood is measured. These tests enable the diet to be adjusted if necessary.

Up to the age of 4, tests are made every week. Levels then become more stable and tests are less frequent.

« Tests throughout life ? »

Phenylketonuria and pregnancy

It is recognised that babies born to mothers with untreated phenylketonuria suffer from mental retardation, microcephaly or various malformations.

If a strict diet is restarted in the pre-conception period and continues throughout the pregnancy, the baby will be born completely normally.

The diet is identical to that used for small children.

Around the 25th week of pregnancy, maternal tolerance of PHE increases as the fetus then develops its own hepatic PAH activity, which means the diet can be broadened.

All metabolic diseases (including phenylketonuria) are reimbursed at 100% by the French social security system.

Low-protein products and amino acid mixes for the treatment of phenylketonuria are delivered by the AGEPS [(French Central Hospital Pharmacy)]. See our boutique.

See below for a table of our products with their AGEPS codes (to be drawn up)