Pku book, the: phenylketonuria and other hyperphenylalaninemias
Éditeur :
Springer Nature Switzerland AG
ISBN :
9783032266897
Date de publication :
6 août 2026
Dimensions :
23,5 x 15,5 cm
Langue :
Anglais
Pays d'origine :
Suisse
Early diagnosis and treatment with a low-Phe diet has enabled an almost normal life for the majority of PKU subject. Pharmacological treatment with BH4 (sapropterin) and enzyme substitution therapy with Phe ammonia lyase (PAL) provide alternative treatment options for some PKU subjects.