Čes-slov Pediat 2025, 80(4):169-172 | DOI: 10.55095/CSPediatrie2025/028
50 years of newborn screening for phenylketonuria
- Klinika dětí a dorostu, 3. lékařská fakulta, Univerzita Karlova, Fakultní nemocnice Královské Vinohrady, Praha
V roce 2025 si připomínáme 50 let od zahájení celoplošného novorozeneckého laboratorního screeningu fenylketonurie v České republice. Jeho význam v diagnostice této vrozené poruchy metabolismu fenylalaninu je neoddiskutovatelný. Předkládaný článek se věnuje nejen historii zavádění screeningu, ale také jeho současnému provedení a léčbě zachycených pacientů.
In 2025, we commemorate the 50th anniversary of the nationwide newborn screening for phenylketonuria in the Czech Republic. Its significance in diagnosing this congenital disorder of phenylalanine metabolism is indisputable. The presented article focuses not only on the history of the introduction of screening but also on its current implementation and the treatment of diagnosed patients.
Key words: phenylketonuria, neonatal screening, dry blood spot, phenylalanin
Keywords: fenylketonurie, novorozenecký screening, suchá krevní kapka, fenylalanin
Accepted: June 5, 2025; Published: July 1, 2025 Show citation
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