80-lecie fenyloketonurii. Część I: historia nazwy i nietuzinkowi pionierzy badań nad chorobÄ

Phenylketonuria is one of the best-known examples of inherited metabolic diseases. It is widely considered as a triumph of western medicine. Untreated phenylketonuria manifests as mental retardation, epilepsy, light complexion, eczema, and a „mousy” odour. This review gives some insight into history of the use of the disease's name, which was probably coined by the biochemist J.H. Quastel and focuses on the contributions of the first medical investigators in the area of abnormal phenylalanine metabolism - I.A. Følling, L.S. Penrose as well as G.A. Jervis. The story of the first family with children diagnosed to have phenylketonuria is presented.