Badania IQ u pacjentów z fenyloketonuriÄ w latach pięćdziesiÄ tych i sześćdziesiÄ tych XX wieku

PKU is currently regarded as a model example of an inborn error of metabolism. Metabolic pediatric often uses the experience gained in treating that illness, for instance in widening the scope of the screening system, in the strategies of caring for diagnosed patients, or in the control of the effectiveness of the therapy. An important parameter of evaluating PKU patients, alongside the monitoring of the serum phenylalanine levels, is the assessment of intellectual functions. The article presents the history of the research on intelligence quotient in PKU patients in the 1950s and 1960s. This pioneering work was largely limited due to the low number of patients in the analysed groups, as well as to their heterogeneity. Research included both the patients diagnosed in pre-symptomatic period and those that were diagnosed too late. In the following years the researchers: Woolf and Griffith in 1955, Bickel and Grüter in 1963, Clayton in 1967, Dobson in 1968, Fuller and Shuman in 1969, as well as others confirmed the need to implement phenylalanine-restricted diet as the only effective form of therapy in PKU.