CHILDREN BORN WITH THIS DISEASE: WHAT IS PHENYLKETONURIA?

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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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President of Organ Transplant Center at MedicalPark Hospital Antalya

Turkey's world-renowned organ transplant specialist. Dr. Demirbaş has 104 international publications and 102 national publications.

Physician's Resume:

Born on August 7, 1963 in Çorum, Prof. Dr. Alper Demirbaş has been continuing his work as the President of MedicalPark Antalya Hospital Organ Transplantation Center since 2008.

Prof. who performed the first tissue incompatible kidney transplant in Turkey, the first blood type incompatible kidney transplant, the first kidney-pancreas transplant program and the first cadaveric donor and live donor liver transplant in Antalya. Dr. As of August 2016, Alper Demirbaş has performed 4900 kidney transplants, 500 liver transplants and 95 pancreas transplants.

In addition to being the chairman of 6 national congresses, he has also been an invited speaker at 12 international and 65 national scientific congresses. Dr. Alper Demirbaş was married and the father of 1 girl and 1 boy.

Awards:

Eczacibasi Medical Award of 2002, Akdeniz University Service Award of 2005, Izder Medical Man of the Year Award of 2006, BÖHAK Medical Man of the Year Award of 2007, Sabah Mediterranean Newspaper Scientist of the Year Award of 2007, ANTIKAD Scientist of the Year Award of 2009, Social Ethics Association Award of 2010, Işık University Medical Man of the Year Award of 2015, VTV Antalya's Brand Value Award of 2015.

Certificates:

Doctor of Medicine Degree Hacettepe University Faculty of Medicine Ankara, General Surgeon Ministry of Health Turkey EKFMG (0-477-343-8), University of Miami School of Medicine Member of Multiple Organ Transplant, ASTS Multiorgan Transplant Scholarship. Lecturer at Kyoto University. Lecturer at University of Essen, Research assistant at the University of Cambridge .

Professional Members:

American Society of Transplant Surgeons, American Transplantation Society Nominated, Middle East and Southern Africa Council Transplantation Society 2007, International Liver Transplantation Association, Turkish Transplantation Association, Turkish Society of Surgery, Turkish Hepatobiliary Surgery Association.

Disclaimer:

Our website contents consist of articles approved by our Web and Medical Editorial Board with the contributions of our physicians. Our contents are prepared only for informational purposes for public benefit. Be sure to consult your doctor for diagnosis and treatment.
Medically Reviewed by Professor Doctor Alper Demirbaş
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