Rare Disease Day – PKU

Phenylketonuria (PKU) is a rare genetic disorder that is present from birth. In PKU, the body is unable to break down an amino acid which then builds up in the blood and in the brain and can cause problems when untreated.
Children and adults with this condition are treated with a special diet for life and they take regular supplements that contain amino acids, vitamins and minerals.
All babies born in Ireland are screened for 8 rare conditions between 72 hours (Day 3) and 120 hours (Day 5) after birth. This ensures that babies with these rare conditions can be given early and appropriate care and treatment. This is commonly known as the ‘heel prick test’. It involves taking a small amount of blood from a baby’s heel onto a screening card for testing. PKU is one of the rare diseases that we screen with this test.
Ireland was the first country in the world to begin a national screening programme for PKU. NCIMD, have been treating patients with PKU from birth since it was added to the National New-born Screening Programme in 1966. 1 in 4,500 babies born in the Republic of Ireland has PKU. Patients with PKU receive frequent monitoring, and will attend the hospital for regular check-ups.
“These are life-long inherited conditions which need special management and restriction of natural protein (normal feeds) and regular monitoring (blood testing), so we have a full professional team at CHI at Temple Street.
This team is comprised of doctors, nurses, Dietitians, psychologists, social workers, laboratory scientists/biochemists, play specialists all supported by wonderful administration staff.
This specialised team provides support to our patients and their families/carers in managing their rare condition at home and according to different times, ages and stresses.” – Professor Ahmad Monavari, National Centre for Inherited Metabolic Disorders