PKU awareness day is observed every year on the 28th of June, aiming to raise awareness of the condition. PKU is a rare genetic disorder caused by a defect in the PAH gene responsible for making the phenylalanine hydroxylase (PAH) enzyme. PAH is needed to break down the amino acid phenylalanine found in many high-protein foods. A lack of PAH means that phenylalanine builds up in the blood and can cause brain damage, seizures, delayed development, behavioural problems, and other complications.
The primary treatment for PKU is a diet very low in phenylalanine. This specialised diet usually includes a medical food formula that provides all other necessary nutrients without excess phenylalanine. In addition to dietary management, some people with PKU may benefit from medication. A medication called sapropterin dihydrochloride (Kuvan) can help increase the body's ability to process phenylalanine. However, not everyone with PKU responds to this medication. Regular blood tests are necessary to monitor phenylalanine levels and adjust the treatment plan. Keeping to a strict diet can be very challenging, especially during adolescence, when we all want to fit in with our peers. Support is available from the National PKU Alliance and the National Society for Phenylketonuria.
In fact, PKU was the first condition to be included in the neonatal screening (NBS) programme developed in the 1960s by Dr. Robert Guthrie. Today would have been Dr Guthrie’s birthday. Hence, the 28th of June is also an International Neonatal Screening Day. Over time, the ‘heel prick’ screening programme has expanded to include other conditions. Today, newborns are screened for various rare genetic, metabolic, and congenital disorders. The goal of the NBS programme is to identify and treat conditions early before they can cause harm.
The specific conditions screened for vary by location. In Europe, between 85% and 100% of babies receive screening, although the number of conditions included in the testing ranges from 2 to 48. In the UK, the number is only 9! The UK Newborn Screening Collaborative is a collective of small, rare disease charities working together to positively progress the NBS programme.
Figures from the International Society for Neonatal Screening show that many countries in Africa and Asia have either no screening programmes or have limited availability. Only around 39 million babies out of 140 million born annually are offered screening (28%). So much more has to be done.
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