What is Phenylketonuria, a Rare Disease?


Phenylketonuria, which is far from home and is a very dangerous disease, although its name is not well known, is a rare genetic disorder. Let’s take a closer look at what phenylketonuria is, how it is diagnosed, its symptoms and treatment, although it is not preventable, but it is possible to reduce its effects.

Thanks to the development of medical science, we can now diagnose and prevent many diseases early, and at least reduce the patient’s symptoms when we cannot prevent them. One of these disorders phenylketonuria It is a lesser known but dangerous disease. Phenylketonuria is caused by gene damage. In other words, it is not possible to prevent it because it is a genetic disease.

luckily phenylketonuria a very rare disease. When seen, it is possible to reduce its effects with the help of diet and medication. What we say get away from homes what is phenylketonuria disease, how is it diagnosed, 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.

phenylketonyr assay

What is phenylketonuria?

Phenylketonuria, short for PKU, is a disease found in the body as a result of damage to the PAH gene. causing the accumulation of an amino acid called phenylalanine It is a genetic disease. Amino acids are the building blocks of proteins. This is why phenylalanine is found in all proteins and some artificial sweeteners.

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?

phenylketonyr assay

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. But to be sure, you can get prenatal information.

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’s a genetic disease It 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?


  • 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

A baby with phenylketonuria may appear normal in the first months, but if 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 hyperphenylalanineemia, where the amount of phenylalanine is high in the body, but not as phenylketonuria. In this case, which is a variant of phenylketonuria disease, only mild symptoms occur in the baby. 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 inherit the damaged gene from both mother and father. 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 all proteins contain phenylalanine, 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.