Phenylketonuria is a hereditary disease discovered by Asbjörn Fölling in 1934 as a result of research on two mentally disabled children. This disease is the first newborn metabolic disorder disease identified. After the discovery of phenylketonuria disease in 1953, it was observed that a diet that could prevent mental retardation was beneficial. And since 1963, phenylketonuria disease has been monitored. In this way, the risk of mental retardation in people is reduced.
With the absence or insufficiency of the phenylalanine hydroxylase enzyme secreted from the liver, the amino acid phenylalanine that should be in our body cannot be metabolized and phenylalanine metabolites accumulated in the blood cause problems in the brain and are excreted in the urine (phenyl pyruvic acid, phenyl lactic acid). (such as acid..) is the disposal of waste products.
While its incidence is 1/100,000 in the world, it is 1/3,600 - 1/4,000 in our country. The reason why it is high in our country is consanguineous marriages.
10 INFORMATION WORTH GOLD TO KNOW ABOUT PHENYLKETONURIA DISEASE
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Can this disease be prevented?
When patients with phenylketonuria are identified in the neonatal period (newborn), mental retardation and other neurological findings can be prevented with nutritional therapy limited to phenylalanine, so early diagnosis is very important. And your child's fate is in your hands!
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What are the symptoms of the disease?
Brain damage caused by the disease is usually noticed by parents in the early months. It may not be done. If the baby; If the baby does not know its mother, cannot hold its head upright even though it is two months old, has a musty smell in its urine, and the baby's hair and eye color is lighter than its parents, it is useful to seek help from a doctor.
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This How is the disease diagnosed?
The amount of phenylalanine in the blood must be measured within the first 20 days after birth. Prof. Dr. Robert Guthrie developed the GUTHRIE TEST in the 1960s and this test began to be performed on newborn babies. In Turkey, screening tests were started by taking blood from the heel of all babies born in 1986. Ferric chloride test is another diagnostic method. patient with phenylketonuria Diagnosis is made by looking at the urine and showing a green color that disappears after 3-5 minutes.
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What is the Guthrie test and when is it performed?
Guthrie test is an easy and inexpensive test. It is measured within 24-48 hours in every newborn baby. Even though the screening test is negative, if there is a suspicious situation such as a history of disease in the families of newborn babies, phenylalanine levels in the baby's blood values are measured and re-evaluated in the 2-4th weeks after birth.7
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A patient with phenylketonuria What foods can an individual consume?
Corn starch, tea sugar, apple juice, compote juice, soda, cola drinks (diet cola containing aspartame is prohibited), plain Turkish delight, plain hard food. Sugar, tea, linden, sage and oil are foods that they can consume freely.
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Which foods cannot be consumed by an individual with phenylketonuria?
Milk and dairy products, eggs, meat and meat products, offal, bread, nuts, legumes, ready-made foods (crackers, biscuits, cakes), and any food items made with foods that should not be consumed should not be consumed.
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Can a baby with phenylketonuria drink breast milk?
Phenylalanine-free formula + medical products + breast milk = can be used. However, blood phenylalanine levels should be closely monitored during this process. In fact, studies have shown that the mental development of a newborn baby with phenylketonuria who consumes breast milk is better.
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Can a mother with phenylketonuria have a child?
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What can be done to prevent it?
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When is the date of phenylketonuria disease?
If a woman with phenylketonuria has received regular treatment throughout her life and this treatment continues during pregnancy, she can bring a healthy individual into the world, at which point the newborn will be a carrier.
We said that early diagnosis is important in phenylketonuria disease. Therefore, making it mandatory to test the newborn baby may show a positive development in the prevention of the disease. Apart from this, it is very important to inform parents. Remember, your child's life is in your hands!
June 1 is known as National Phenylketonuria Day.
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