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WHAT IS PHENYLKETONURIA (PKU)?
Phenylketonuria (PKU) is a disorder of amino acid metabolism that occurs in infants born without the ability to break down the amino acid phenylalanine. Phenylalanine, which damages the brain, accumulates in the blood, president of PKU (phenylketonuria) Family Association, made important statements to the spokesperson about the disease.
Phenylketonuria (PKU), one of the hereditary diseases, is a species that prevents the breakdown of amino acid phenylalanine. Due to the formation of phenylketonuria, it creates an accumulation of acid in the body and causes brain damage to the child. Important remarks of PKU (phenylketonuria) Family Association…
What is general information about the disease?
Children born with this disease cannot convert the amino acid phenylalanine into another amino acid, tyrosine. The enzyme phenylalanine hydroxylase, which will provide this transformation, is missing in these patients. Phenylalanine, like other amino acids, is one of the building blocks of protein. Phenylalanine, which is taken with nutrients in patients with phenylketonuria and cannot be converted to tyrosine, accumulates in the blood and other tissues. The accumulated phenylalanine causes irreversible and progressive brain damage.
Is there a cure in Turkey? What is the success rate of treatment?
Early diagnosis and treatment of this disease is possible with Neonatal Screening Test. Turkey’s newborn screening achieved a very serious success, such as 98 percent.
Where are the screening centers?
There are now two major screening centres in Turkey, Istanbul and Ankara. It opened in 2000-2006. All babies born in Turkey are sent to these screening centers. This is a good thing, but the average diagnosis time in the world does not exceed 4-5 days, while we still have an average diagnosis time of 20 days, unfortunately. Therefore, the blood that will go to the screening center can be digitally transported much better, much faster, perhaps with a different cargo system. There is still a loss of 2 percent because there is no such consciousness in society. Plus 20 days diagnosis time unfortunately, in today’s conditions, early diagnosis does not occur in this technology. I knew it for 4-5 days in the books. My daughter born in 2001, was diagnosed on day 18. I was suing the hospital, and the teachers told me that the average in Turkey was 20 days. Currently, mobile phones, tracking processes, identification numbers, everything can be found by everyone. An instant message can be sent to the family in a digital environment. It could be a system like this. If we use them, we’ll actually reverse that twenty-day diagnostic process.
What should people with the disease eat?
In the dietary treatment of patients with phenylketonuria, the diet should be adequate and balanced in favor of protein, energy, vitamins, minerals and phenylalanine. So that should be consumed in the diet treatment foods, free foods, foods to be consumed in limited quantities (by weighing should be given), the family and medical foods low fenilalaninli fenilketonuril growing by the patient must be known.
What shouldn’t they eat?
– Milk and dairy products (milk, yogurt, buttermilk, cacık, cheese and its varieties, all foods made with them)
Egg
– Meat and meat products (red meat, chicken, fish, turkey meat, salami, sausage, sausage, bacon, roasting, shellfish, mussels etc.b)
– Meat and meat products (red meat, chicken, fish, turkey meat, salami, sausage, sausage, bacon, roasting, shellfish, mussels etc.b)
– Internal organs of the animal (brain, liver, kidney, etc.b.)
– Normal bread (wheat, rye, oats, corn breads)
– Dried fruits (nuts, peanuts, leblebi, core varieties, almonds, walnuts)
– Dried beans (dried beans, chickpeas, lentils, inner beans, soy beans, dried kidney beans)
– Ready-made food (crackers, biscuits, cakes, cookies, cakes and all foods made with prohibitions)
– All drinks, chewing gum, food containing aspartame and phenylalanine.
PHENYLKETONURIA: ACTIVE IN INBREEDING!
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