Every June 28th, World Phenylketonuria Day is celebrated, with the aim of raising awareness of this rare disease that has a prevalence of 1 in every 10,000 births in Europe.
Why is it celebrated?
The aim is to raise awareness and educate the population about the symptoms and timely diagnosis of this pathology, in order to achieve better treatments, access to low-protein foods and the PKU formula.
The creation of this anniversary in 2013 was at the initiative of the European Phenylketonuria Societyin Antwerp (Belgium).
What is Phenylketonuria?
The Phenylketoluria or PKU It is a rare, metabolic and genetic disease, caused by deficiencies in the function of the enzyme phenylalanine hydroxylasegenerating the accumulation of this amino acid in the body.
Some of the symptoms of this disease are as follows:
- Musty smell on the breath.
- Neurological problems (seizures).
- Skin rashes (eczema).
- Developmental delays.
- Intellectual disability.
- Blue eyes and light skin, because phenylalanine cannot be transformed into melanin.
- Microcephaly.
- Intellectual disability.
- Hyperactivity.
Lack of adherence in PKU can impact patients’ health, affecting their neurocognitive and psychosocial function.
Neonatal screening is of vital importance to detect this disease in time, by extracting drops of blood from the newborn’s heel.
With this, the corresponding treatment will be applied, which includes a protein-restricted diet, in order to avoid neurological damage.
People who suffer from this condition should not eat meat, fish, milk, eggs, among other foods, to avoid severe intellectual and motor disabilities.
How is this world day celebrated?
In celebration of this anniversary, face-to-face and virtual conferences are held on this rare disease. Some public buildings illuminate their facades in blue, in solidarity with people who suffer from it and their families.
Share useful and interesting information about the World Phenylketonuria Day on social networks. Use the hashtags #WorldPhenylketonuriaDay #Phenylketonuria #PKUday
