Turkey ranks first in the list of countries with PKU in the world. 1 in 4 thousand babies is born with the disease ‘PKU’. According to scientific data, 1 in 20-25 people is a ‘PKU’ carrier, even though they are not sick. These patients can live their lives without experiencing the mental and physical problems caused by the disease with early diagnosis and proper treatment. 2000 patients diagnosed with ‘PKU’ are treated at Hacettepe University Hospital. Hacettepe University Department of Pediatrics Department of Pediatric Metabolism Lecturer Prof. dr. Dr Serap Sivri, drawing attention to the importance of early diagnosis, said: “If diagnosed and followed up in the first weeks of birth, healthy individuals of perfectly normal intelligence, no different from other individuals, will graduate school and get a job, are formed. We give a gift of life,” he said.
Prof. Dr. Sivri emphasized that ‘PKU’ has entered the literature as an inherited metabolic disease, saying: “From the moment babies are born, they cannot process phenylalanine, an amino acid, in the body and this substance starts to accumulate in the blood and body fluid This buildup is only harmful to the brain Because it causes damage by settling in the neurons in the brain As a result it manifests itself with intellectual disability and as this is a progressive disease is, the later you diagnose the disease, the more consequences the disease will cause. We realize that he cannot smile. There is a delay in sitting and walking. After significant impairments in language development, a serious illness develops in the later stages , in which communication cannot be established and sometimes accompanied by convulsions, in other words, seizures physical change g he moults . Accordingly, if this disease is not recognized early and treated appropriately, there are individuals who are extremely serious and always need someone else’s care.
‘One of the most common hereditary disorders’
Pointing out that the disease is treatable, Prof. Dr. Sivri said: “We start feeding the baby with some breast milk, but with a special formula that does not contain ‘phenylalanine’. If we switch to complementary foods, as opposed to normal children, fruit purees, vegetable soups, bread made from special flour with increased starch and reduced wheat protein for these patients, special We want pasta made from flour to maintain a diet for a lifetime. Hacettepe is currently one of the oldest and largest centers in Turkey more than 2,000 patients are followed in our own center.It is the most common hereditary disease in Turkey.This disease affects 1 in 15-20 thousand people in America, 1 in 60 thousand in Japan, 1 in 12 -15 thousand people in Europe and 1 in 4 thousand people in Turkey.The first reason for this is a consanguineous marriage.If a person who has the disease but is not ill, gets married to another pe rsoon who has the same disease as himself, these people are healthy, but their children are 25 percent. It is possible, i.e. a quarter chance, that a patient will be born,” he said.