Rare Disease Awareness Day: Phenylketonuria (PKU)
The National PKU Alliance (NPKUA) is celebrating December 3rd as National Phenylketonuria (PKU) Awareness Day to educate and spread awareness about the rare disease PKU. The organization has a webpage where there is a list of activities that one can participate in to help advocate for PKU.
A Norwegian doctor in 1934 discovers PKU. PKU is a rare, inherited metabolic disease where the body is not able to use the amino acid, Phenylalanine. The disease is caused by a deficiency of the liver produced enzyme Phenylalanine Hydroxylase (PAH). Without PAH, Phenylalanine builds up in the blood and poisons nerve cells in the brain. If PKU is not treated shortly after birth, it can be destructive to the nervous system, causing mental retardation. The disease is detectable after birth with appropriate blood testing during routine neonatal screening.
A mutation in a gene on chromosome 12 causes the disease. When this gene is mutated, the shape of the PAH enzyme changes and it is unable to properly break down phenylalanine. PKU is an autosomal recessive disorder – need to inherit mutations in both copies of the gene to develop the symptoms of PKU. PKU’s estimated prevalence is:
• 1/15,000 babies in the United States
• 3/50,000 babies in Europe.
Early detection is crucial. When treatment is begun within the first few weeks of life and adhered to, affected children can expect normal development and a normal life span. PKU’s treatment involves controlling the patient’s diet with a protein-free diet, because almost all proteins contain Phenylalanine.
Because early detection of PKU is so important, NPKUA is offering a challenge involving designing a home test that helps to determine the measurement of blood phenylalanine. The challenge is posted on InnoCentive’s website with a deadline date of December 15, 2013. The challenge:
” … requires a theoretical design of a rapid and robust test that could be developed for home use. NPKUA intends to make up to 8 awards from a total award pool of $80,000 – awarded solutions will be advanced to produce proof of concept data in a subsequent Reduction to Purpose challenge with milestone awards of $10,000, $50,000 and a final award of up to $200,000. This second challenge may be a public or invitational challenge. This Challenge requires only a written proposal. “
Please Note: “PKU Awareness Day Logo” courtesy of the National PKU Alliance.