What is Phenylketonuria? – Health news

Specialist doctor Asburçe Olgaç Kılıçkaya drew attention to the importance of ‘June 1 National Phenylketonuria Day’ and noted that phenylketonuria is a hereditary metabolic disease that occurs with the increase of the substance ‘phenylalanine’ in the blood. Kılıçkaya said that the substance of phenylalanine is actually an amino acid; He said it’s the building block of protein and said, “We get phenylalanine from food, from foods rich in protein, like meat, milk and eggs. To use phenylalanine in the body, we have to burn it with a special enzyme in the body. When this enzyme is not working properly, phenylalanine cannot be burned in the blood and its levels increase. It then moves to the brain and causes a number of important effects, most notably mental retardation.


Kılıçkaya said the disease is actually rare around the world: “The reported frequency in the United States is one in 25,000 and one in 15,000 in Europe. However, in our country, we see this disease relatively more often in one in 4,000 people This disease is hereditary. In other words, the baby inherits this disease from the mother and father, which we call “hereditary” among the people. Since the mother and father are carriers, they do not have any problems. That is, individuals who appear healthy from the outside. However, they inherit this disease from their children. Both There is a 25 percent chance that a sick child will be born to a father and mother who are carriers, and this disease is more common in societies where consanguineous marriages are common, like in our country.


Kılıçkaya stated that babies with this disease are completely normal at birth and said, “If the disease is not diagnosed in the early period and necessary precautions are not taken, problems such as malnutrition, vomiting, skin eczema and irreversible mental retardation arise as a result of the accumulation of phenylalanine in the blood. To avoid severe symptoms such as mental retardation due to the disease, the disease must be diagnosed and treated at an early stage. Therefore, every baby born in our country is screened for phenylketonuria in the heel blood test Additional examination by the pediatrician of the babies with high phenylalanine levels in the heel blood test “Any increase in phenylalanine does not indicate a classic phenylketonuria disease that we know needs dietary treatment. However, babies with high heel blood phenylalanine should also be followed up by the Pediatric Metabolic Diseases Unit,” he said.


Kılıçkaya stated that patients with phenylketonuria need limited nutrition of the amino acid phenylalanine for life, Kılıçkaya said: “The diagnosed babies continue to receive breast milk, but they need to be supported with some special products and formulas. If he stops the diet in the following periods he may encounter problems such as reduced school success, hyperactivity, attention deficit, social withdrawal and depression. Therefore, it is necessary to ensure dietary compliance in adulthood, i.e. lifelong in these patients.

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