What is phenylketonide?

What is phenylketonide?

Good afternoon, I would like to tell you about this week, which is a very current issue in the media and the last week of ARENA program, which is a congenital genetically transmitted protein metabolism disease, Phenylketonuria.

Our lives are full of surprises, sometimes pleasing and sometimes sad. A happy marriage and then a baby that will reinforce this happiness is the indispensable desire of every married couple ğ Our wish is to raise healthy generations and to protect them until the end.

Phenylketonuria is a congenital genetic disorder of protein metabolism. When babies are born, they do not show signs of this disease, but in the following months, families who notice the development of amino acids called phenylalanine (such as sugar released when a protein nutrient is eaten, that is released when eating a carbohydrate nutrient in the same diabetic patients), develop late according to their peers. The diagnosis is made with the help of 1 drop of blood. With the discovery of this disease, the lack of mentally handicapped children and the chance of early diagnosis and treatment have been provided to infants with normal growth, intelligence and development through scientific studies.

For the first time in the world, the Norwegian clinician and biochemist Asbjörn Fölling described phenylketonuria by excretion of phenyl pyruvic acid in the urine of two mentally retarded siblings. In 1953, Bickel demonstrated that the disease could be treated with phenylalanine (phe) restricted diet, and in the mid-1960s, the development of a phe-restricted semi-synthetic formulas began to prevent mental retardation.

Robert Guthrie, who was affected by his nephew's late diagnosis of PKU, was treated with a special method with 1 drop of blood from a heel taken on a special filter paper. newborn screening spread all over the world It has provided.

In the late 1980s, molecular studies in PKU revealed that the phenylalanine hydroxylase (PAH) gene was located on chromosome 12, and in 1987 the diagnosis was developed in the womb.

The incidence of PKU varies between countries depending on ethnic, geographical and sociocultural conditions. The fact that consanguineous marriages are common in our country and that one out of every 20-25 people carry this disease causes the disease to be seen frequently. In our country, 1/4500, Ireland 1/6110, Germany 1/9000, USA 1/13000, Finland 1/71000.


Phenylketonuria is a disease that can be treated with diet. Since the patients who do not comply with the treatment may have mental and developmental disorders, the families of the patients should learn the diet very well. Treatment must necessarily follow phenylketonuria and be in treatment centers. Screening and treatment of this disease are performed in the Nutrition and Metabolism Departments of the Faculty of Medicine, Dokuz Eylul University, Faculty of Medicine, Hacettepe University, Faculty of Medicine, Istanbul University, Istanbul Medical Faculty, Cerrahpasa Medical Faculty.


To the best of our knowledge, diet therapy should be lifelong. In patients with phenylketonuria who were put on diet in the neonatal period, they had difficulty in perception and decreased attention when they left the diet when they were adults.


It is the limited administration of phenylalanine, which is released by digestion of the protein present in the nutrients, which accumulates in the blood and is harmful to the brain. Phenylalanine is a type of protein required for growth and development.


Breast milk is a necessary food for the growth and development of infants. Even the first 6 months babies should be fed with breast milk. Infants with phenylketonuria can be fed together with breast milk by using phenylalanine-free mixtures (medical formulas) and blood phenylalanine values ​​are closely monitored.

Do diets of patients with phenylketonuria differ?

The diet is different for each patient. The diet varies according to the patient's height, age, body weight, type of phenylketonurine and blood phenylalanine level.

What should patients eat with phenylketonuria?

Dietary treatment of patients with phenylketonuria diet, protein, energy, vitamins, minerals and phenylalanine should be sufficient and balanced. Therefore, foods that should not be consumed in dietary treatment, free foods, foods to be consumed in limited quantities (to be given by weighing), medical foods with low phenylalanine should be known by the family and the growing patient with phenylketonuria.


Milk and dairy products (milk, yogurt, buttermilk, tzatziki, cheese and varieties, all foods made with them)
Meat and meat products (red meat, chicken, fish, turkey meat, salami, sausage, sausage, bacon, roasting, shellfish mussels etc.)
Meat of internal organs of the animal (brain, liver, kidney etc.)
Nuts (nuts, peanuts, chickpeas, kernel varieties, almonds, walnuts)
Legumes (dried beans, chickpeas, lentils, iced pods, soybeans, red kidney beans)
Prepared foods (crackers, biscuits, cakes, cookies, pastries and all foods made with prohibitions)
All beverages, chewing gum, foods containing aspartame and phenylalanine.


Corn starch, plain marshmallow, plain rock candy, tea, linden, sage, oils, tea sugar, apple juice, compote juice, soda, soda drinks


All vegetables, all fruits, all bakery products, olives, margarine, butter, honey, molasses.


Low protein beverage (mlp lpd), low protein custard (mlp lpf), low protein cereal (mlp flakes), low protein vegetable canned food, low protein pasta, low protein rice, low protein flour, low protein bread, low protein wafer, low protein cookies, low protein biscuits, low protein chocolate, special gel for making yogurt, milk sugar for making yogurt, low phenylalanine cheese, low protein semolina and many other products are included in the medical nutrition. According to the amount of feninlalanin contained in medical foods, consumption in the diet is adjusted by decreasing from portion.

I'm a nutritionist who treats this disease. For treatment, there must be an experienced pediatrician, biochemist, pedagogue, geneticist, nurse, biologist and laboratory technician.

You can call the relevant centers for information and help regarding the disease, and ask your health care staff if a drop of blood has been taken from your heels when your newborn baby is discharged.

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