Historia fenyloketonurii - pierwsze trzydzieści lat

In 1934, a Norwegian biochemist and physician, Ivar Asbjörn Fölling, described a new, hitherto unknown disease, which was the cause of mental retardation in two young patients. Apart from the visible symptoms, such as the characteristic musty odour, eczema, microcephaly, pale skin, and fair hair, Fölling found that in their urine there was phenylpyruvic acid. Further research allowed to investigate better and to describe the mechanism behind the disease, and later also to counteract it. In 1944, it was shown that phenylalanine is predominantly parahydroxylated to tyrosine. Three years later, it was established that the metabolic flaw in PKU is the inability to perform this hydroxylation. Further years saw the development of a low-phenylalanine diet, and in 1953, the first low-phenylalanine product was introduced on the market. Specialists treating PKU patients were trying to find methods of its early detection, which proved crucial from the point of view of the prognoses for the patients. In 1962, a blood test was introduced that enabled a fast diagnosis of PKU.