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Thanks to the development of medical science, we can diagnose many diseases early, prevent them, and at least reduce the symptoms of the patient when we cannot prevent them. One of these disordersphenylketonuria is also a little-known but dangerous disease.Phenylketonuria disease is caused by gene damage, so it is not possible to prevent it because it is a genetic disease.

luckilyphenylketonuria is a rather rare disease. When seen, it is possible to reduce its effects with the help of diet and medication. What we say get away from homesWhat is phenylketonuria disease, how is it diagnosed, If we answered the questions of what are the symptoms and treatment. Let us remind you that what we tell is for informational purposes only. When you suspect this disease, especially in newborn babies, you should consult your doctor.

What is phenylketonuria?

Phenylketonuria, short for PKU, is a disease found in the body as a result of damage to the PAH gene. that causes the accumulation of an amino acid called phenylalanine is a genetic disease. Amino acidsollarser are the building blocks of proteins. That’s why phenylalanine is found in all proteins and some artificial flavors.

Normally, the PAH gene produces the enzyme phenylalanine hydroxylase, which converts phenylalanine to tyrosine. The enzyme also creates neurotransmitters such as epinephrine, norepinephrine, and dopamine. Phenylalanine hydroxylase enzyme is not produced in patients with phenylketonuria.phenylalanine cannot be broken down and begins to accumulate.Unfortunately, where it accumulates is in the brain.

How is phenylketonuria diagnosed?

Phenylketonuria test is done with the blood taken from the heel of newborn babies and the results are obtained in an average of 10 days. many hospitals applies this test to newborn babies as standard.However, you can get prenatal information to be sure.

The reason for the phenylketonuria test by taking blood from the baby as soon as it is born is to diagnose the disease early.Because it is a genetic disease begins to affect the body from the moment of birth. For this reason, although doctors cannot prevent the disease with early diagnosis, they can prevent the appearance of symptoms.

What are the symptoms of phenylketonuria?

  • have a seizure
  • Intense shaking
  • Insufficient growth
  • Hyperactivity
  • Eczema and similar skin conditions
  • Musty odor in breath, skin and urine
  • If not diagnosed,
  • Irreversible brain damage
  • Behavioral disorders in children

Baby with phenylketonuria may appear normal in the first months, butif the treatment of the disease is not started the symptoms in the first items will be seen. If the disease is not diagnosed and treatment is not started, other symptoms will appear and brain damage will occur irreversibly. For this reason, early diagnosis is vital for phenylketonuria, like many other diseases.

There is another condition called hyperphenylalaninemia, where the amount of phenylalanine is high in the body, but not as phenylketonuria. In this case, which is a variant of phenylketonuria disease,the baby has only mild symptoms. However, if it is not diagnosed early and treatment is not started, brain damage may occur.

What causes phenylketonuria?

As we mentioned before, phenylketonuria is a disease caused by gene damage. For the emergence of this disease, the baby, must receive damaged genes from both mother and father.The result of a damaged gene from only one parent will not result in phenylketonuria. For this reason, people who want to have children can learn about the situation by having an enzyme test beforehand.

Although phenylketonuria is a genetic disease that cannot be prevented, the main trigger is protein foods. Since there is phenylalanine in all proteins, as the person with this disease takes protein, the amount of amino acids accumulated in the body will increase and the possibility of brain damage will increase along with the symptoms.

Phenylketonuria treatment:

Since the main triggers of phenylketonuria are protein-containing foods, patients A diet formula called Lofenalac is applied. According to this diet, patients with phenylketonuria do not consume eggs, cheese, nuts, milk, beans, white meat and red meat. Special prescriptions are prepared by dietitians for adequate protein intake within the formula.

recently approved by the United States Food and Drug Administration FDA. There is a drug called sapropterin Kuvan.This drug is known to reduce the level of phenylalanine in the body. However, it is only effective in mild cases. In severe cases, it can be used together with didollarse for support. Still, diet is the primary treatment.

How common is phenylketonuria?

When we look at the sources published in the United States of America, it is said that it is seen in 1 in 10 thousand or 15 thousand newborn babies per year. If the resources in our country they explain this number as 1 in 5 thousand newborn babies per year.

Enzyme test to be done to prospective mothers and fathers before having a child this rate can go down to much lower levels.Because the damaged gene has to be inherited from both mother and father, this is extremely unlikely. However, it is necessary to take precautions.

Phenylketonuria disease in pregnancy:

If the expectant mother is not only a carrier of the damaged gene and is a diagnosed phenylketonuria patient, during and after pregnancyfor both baby and mother can be risky. Although the possibility of miscarriage is high, other conditions that can be seen in the baby are as follows;

  • mental disability status
  • Heart problems
  • Growth delay
  • Low birth weight
  • An unusually small head

All these symptoms are not immediately seen in newborn babies as soon as they are born, but the doctor who knows the risk of the mother,testing the babycan understand the situation. Some of the consequences of this high-risk condition can be prevented, but some will have irreversible effects on the baby.

Phenylketonuria disease in the long term:

The most important point about phenylketonuria disease is an early diagnosis and rapid treatment. The baby, who is diagnosed early and whose treatment is started immediately, can continue his life by continuing the treatment in the later years of his life, despite the risk of possible bad effects.

Phenylketonuria is not diagnosed early with postpartum blood test and in babies whose treatment is not starteddevelopmental delay, behavioral and emotional problems together with tremor seizures are seen. The earlier the treatment is started, the less likely these effects will be seen.

A rare but dangerous diseaseWhat is phenylketonuria, how is it diagnosed, If we answered the questions such as what are the symptoms and treatment, we explained the points you need to pay attention to. Early diagnosis is life saving in almost all diseases. For this reason, do not neglect to consult your doctor as soon as possible for any discomfort you suspect in your baby or cat.


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