Thu. Jun 20th, 2024

June 1st Phenylketonuria Day: Hereditary Disease and Newborn Screening Program

By Haberyaz Jun1,2024

June 1st Phenylketonuria Day: Hereditary Disease and Newborn Screening Program

Phenylketonuria (PKU) is a hereditary metabolic disorder where the amino acid phenylalanine, found in protein, cannot be converted by the body, resulting in a dangerous buildup in the blood that can cause irreversible brain damage. If not diagnosed and treated early, it can lead to severe intellectual disability. However, babies diagnosed early can lead healthy lives with proper dietary management.

At birth, babies with PKU are indistinguishable from healthy infants. This makes early diagnosis crucial. Developmental delays and intellectual disabilities are major signs that appear in the following months. Additional symptoms include vomiting, excessive hand, arm, and head movements, seizures, skin rashes, and a musty odor in urine and sweat. About 60% of cases may present lighter hair, eye, and skin color compared to parents.

Turkey is among the countries where PKU is most prevalent, primarily due to the high rate of consanguineous marriages. Annually, approximately 200-250 new PKU cases are diagnosed.

As part of the Newborn Screening Program, a few drops of blood taken from the baby’s heel are used to perform the PKU screening test. This enables early diagnosis and timely treatment for affected babies.

We stand by families with PKU-affected babies and adults carrying this disorder. We also urge prospective parents to recognize the importance of the Newborn Screening Program. This program is vital for taking necessary steps towards a healthier life for babies right from birth.

Source: Republic of Turkey Ministry of Health

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