What is Phenylketonuria?
Phenylketonuria (PKU) is a rare genetic condition that can be diagnosed by a simple new-born screening. 1st of June is celebrated as “National Phenylketonuria Day” in order to create social awareness in Turkey which has a high rate and also 1 out of 4,500 within new born babies are diagnosed with this genetic condition compared to our countries.

Dr. Suat Günsel University of Kyrenia Hospital Paediatrician and New-born Specialist Seyhan Erişir Oyguncu MD., made a statement about Phenylketonuria, symptoms and treatment options:

“Phenylketonuria (PKU) is characterized by absence or deficiency of an enzyme (phenylalanine hydroxylase) that is responsible for processing the essential amino acid phenylalanine. Phenylalanine abnormally accumulates in the blood and these increased levels of phenylalanine are toxic to the brain tissue. This disease is passed to children by two parents who are carriers of the disorder or have the defective gene and it is also an autosomal genetic disorder.

The symptoms of PKU may include vomiting, having a musty odour in the skin or urine and neurological problems such as seizures and neurodevelopmental problems. The clinical symptoms such as lack of interest in other people, incontinence and deficiency in neurological developmental stages are seen.

Some patients tend to have fair skin and light eyes, because phenylalanine can’t transform into melanin — the pigment responsible for hair and skin tone. This disease, which can be treated with early diagnosis in the new born period, is a metabolic disorder that leads to severe neurological and developmental disorders and mental retardation.

For diagnosis Guthrie test is performed by taking few drops of blood from a baby’s heel. This screening test should be performed when the baby is three days old to prevent erroneous laboratory results. Additional tests may be performed to confirm the initial results.

Babies with PKU should follow a diet that limits foods containing phenylalanine, low in protein. Also regular blood tests to check phenylalanine level and doctor visits are necessary to help normal growth. They should be done in experienced and equipped medical centers.