General Information About Phenylketonuria
Disease Details and Frequently Asked Questions
It is the inability to produce the enzyme that digests the 'phenylalanine' amino acid found in protein-rich foods due to a genetic error, causing this substance to accumulate in the blood and act as a poison.
It is inherited in an autosomal recessive manner. It occurs in the child if both the mother and father are carriers. Therefore, it is more common in societies where consanguineous marriages (marriages between blood relatives) are frequent.
The high levels of phenylalanine accumulated in the blood cross the blood-brain barrier and irreversibly destroy the normal development of brain cells and the neural connections between them.
It shows no symptoms during the newborn period. In untreated babies, developmental delay, seizures (epilepsy), a 'musty' odor in the urine, and lightening of hair/eye color (blondness) are seen within months.
To detect the disease before irreversible damage begins, the routine Newborn Heel Prick screening taken within the first 3-5 days after the baby is born is of vital importance.
Treatment is entirely based on diet. Patients must strictly avoid protein-rich foods containing phenylalanine, such as meat, milk, eggs, cheese, and legumes, for their entire lives, consuming only special medical formulas and low-protein products.
Our health library contents are prepared for informational purposes only and with scientific data available at the time of recording. For all your questions, concerns, diagnosis, or treatment regarding your health, please consult your doctor or a healthcare institution.
