What Is Phenylketonuria, Its Symptoms And How Is It Treated?

What is phenylketonuria (PKU), which can cause mental retardation and major brain damage in infants if not detected early? What are the symptoms, is there a cure? We told you what you were wondering!

Hands Holding Tiny Baby In Hospital

What is phenylketonuria?

Phenylketonuria is a metabolic disease that can be inherited. The bodies of babies with phenylketonuria cannot break down a substance called phenylalanine found in protein foods.

The accumulated phenylalanine damages the baby’s developing brain. Therefore, phenylketonuria causes mental retardation and nervous system problems if left untreated. Phenylketonuria is more common in consanguineous marriages.

What are the symptoms of phenylketonuria?

  • Retardation in sitting, walking and speaking skills,
  • Head being small compared to its peers,
  • Excessive hand, arm and head movements
  • Sarah’s seizures
  • skin rashes,
  • Urine and skin smell like mold,
  • Vomiting.

How is phenylketonuria diagnosed?

Often the features that distinguish sick babies from healthy ones are not noticed in the first months after birth. If the diagnosis has not been made and the baby has been fed normally during this period, the disease manifests itself with the emergence of developmental delay.

The baby has little to do with his environment, eczema symptoms may appear on his skin. As the disease progresses, mental retardation becomes more evident, and no physical problem is observed.

Early diagnosis is very important because it is difficult to care for children with phenylketonuria. Thanks to early diagnosis, the development of symptoms can be prevented with a suitable nutrition program before the disease manifests itself.

How is phenylketonuria diagnosed?

In order to diagnose, babies are screened for phenylketonuria in obstetrics clinics. Nervous system around 4th month, 5-6th month. After the first month, mental retardation problems are noticed. The first 2-6 days after birth. A drop of blood taken from your baby’s heel within days is sufficient for diagnosis. You should definitely not neglect this test.

When is phenylketonuria screening done?

The best time to screen for phenylketonuria is after the baby begins to feed. You can have a phenylketonuria test after the 2nd day of your baby’s birth.

In some cases, early screening may be required. At such times, the test is 7-15. repeated in days. It is also possible to prevent phenylketonuria findings with early diagnosis.

How is phenylketonuria treated?

In the treatment of phenylketonuria, it is aimed to keep the phenylalanine level in the blood within normal limits, and the amount of phenylalanine taken with food is tried to be reduced. For this purpose, special formulas with very reduced phenylalanine are used.

Treatment is continued during the first 8-10 years, when brain tissue develops most rapidly. Since the disease is permanent for life, a long-term phenylketonuria diet should be applied.

How long does a phenylketonuria patient live?

The important thing in phenylketonuria is to prevent the disease before severe symptoms occur. With timely PKU testing, early diagnosis and a timely diet, babies can grow up healthily without any brain damage. However, the disease does not show improvement with advancing age.

How should a child with phenylketonuria be fed?

The child with phenylketonuria should consume special foods that do not contain phenylalanine. When the baby is born, breast milk is not given. However, breast milk can be given later by monitoring the phenylalanine level. A diet should be prepared for the child under the supervision of an endocrinology or nutrition-metabolism specialist.

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