Norwegian physician and biochemist Dr. Ivar Asbjørn Følling (1888. – 1973.) will forever be remembered as a man who discovered Phenylketonuria (PKU) disorder and as a “father” of the first PKU test. He is also unofficially considered as the most important medical scientist not to receive the Nobel Prize for Physiology or Medicine.
You became a parent and your baby has been diagnosed with PKU. Naturally, you’re wondering: “My God, why this had to happen to me? What shall I do now?” Don’t worry, this is a perfectly normal reaction to any unexpected situation. But good news is that this is a treatable disease and if you stick strictly to a diet prescribed by your doctor, your baby will be all right.
PKU is the abbreviation for the metabolic disorder called Phenylketonuria which occurs in every 10.000-15.000 newborns and can affect both sexes equally. The disorder is caused by a mutated gene which is normally responsable for creating enzymes needed to break down amino acid called phenylalanine. High level of phenylalanine in patient’s blood can lead to serious health problems, including mental retardation.
Did you know that all the newborns since 1970s’ have had at least one Phenylketonuria (PKU) test done in their life? And almost none of them knew that they’ve been tested on this disease. Namely, from 1966., most of the countries started to organize neonatal screenings. That means that every child was taken a little bit of blood from the heel after the birth, and then was tested on PKU disease.