28 June is World Phenylketonuria Day - a good opportunity to find out what PKU is.
It is an inborn defect of metabolism with a genetic basis. The cause of the disease lies in the absence or significantly reduced activity of an enzyme located in the liver called phenylalanine hydroxylase, which is responsible for converting phenylalanine into tyrosine. Phenylalanine is an amino acid, a component of protein, present in most foods we eat every day. In patients with untreated phenylketonuria, high serum concentrations of phenylalanine are observed, which, crossing the blood-brain barrier, penetrates the central nervous system and causes disturbances in the formation of neurotransmitters. This situation is dangerous for the brain and is the cause of its damage and subsequent intellectual disability. It is most important to start nutritional treatment as soon as possible after the diagnosis in the first days after birth, while a restrictive diet should be continued throughout life. Normal phenylalanine concentrations protect the PKU patient from neurological disorders and intellectual dysfunction. Nutritional therapy, despite the emergence of new directions in the management of PKU, still remains the gold standard for the treatment of phenylketonuria - says Agnieszka Chrobot, MD, PhD, of the Metabolic Diseases Outpatient Clinic of the Voivodship Children's Hospital in Bydgoszcz.
Testing for phenylketonuria is included in the screening package that is carried out on all newborns in Poland. Every year, the disease is detected in around 55 newborns[1]. Along with cystic fibrosis, it is one of the most common inborn defects of metabolism. In Poland there are approx. 2 000 diagnosed patients with PKU.
What to eat when you have to watch out for everything?
Most of the foods that form the basis of a healthy person's diet have to be excluded by PKU patients. It would seem that since they should eliminate products with a high content of natural protein from their diet, they still have a whole range of products available on shop shelves to choose from. However, it turns out that phenylalanine is present not only in animal products such as meat, fish and dairy, but also in legumes, cocoa, chocolate and flour products. And this significantly limits the choices.
The exclusion of products with a high natural protein content from the diet is associated with the need to provide the body with the required nutrients in other ways. Therefore, an important role in the diet of patients with PKU is played by special protein-replacement preparations, thanks to which the patient can supplement the daily supply of protein and other nutrients. The vast majority of preparations in Poland are reimbursed. - explains Dr Agnieszka Chrobot.
According to the 'Phenylketonuria Awareness' survey, according to respondents who have heard of PKU, the biggest challenges the disease poses are related to a particular diet and self-management. A third of respondents (32%) indicated that it is a strict diet that has to be followed for life. One in five respondents (21%) identified the need to constantly control their diet - every day - as the biggest challenge, and for 14% it is the difficulty of functioning in society (not being able to eat what others eat).
#Fenymen is a campaign run by Nutricia Polska, which aims to motivate people to stick to their diet, pursue their passions and enjoy everyday successes. It is a unique space of support, exchange of experience and knowledge, motivation and contact with experts for people with PKU.
https://fenymenalni.pkuconnect.pl/
The survey 'Knowledge of phenylketonuria', conducted by SW RESEARCH as part of the #Fenymen campaign, on behalf of Nutricia from 07.04-08.04.2020 using online interviews (CAWI) on the SW Panel web panel. The survey involved 808 questionnaires with a representative sample of Poles over the age of 18. The aim of the survey was to determine the level of knowledge of Poles about phenylketonuria.