Fiche publication
Date publication
mai 2021
Journal
Medecine sciences : M/S
Auteurs
Membres identifiés du Cancéropôle Est :
Pr GUEANT Jean-Louis
,
Dr OUSSALAH Abderrahim
Tous les auteurs :
Wiedemann A, Jeannesson É, Oussalah A, Guéant JL, Guéant-Rodriguez RM, Feillet F
Lien Pubmed
Résumé
Phenylketonuria is the most common inborn error of metabolism and causes irreversible mental retardation if left untreated. Its newborn screening was made possible by the technique of blood collection on filter paper developed by Robert Guthrie. Neonatal PKU screening began in France in the early 1970s. It was initially carried out by a bacteriological method, then by fluorometry, and finally, since 2020, by tandem mass spectrometry. More than 35 million newborns have been screened to date. This resulted in the diagnosis of more than 3,500 children with PKU or mild hyperphenylalaninemia. The management of these children has improved over time, in particular thanks to the techniques of biochemistry and molecular genetics which lead to an accurate diagnosis and the arrival of drug treatment by sapropterin. Thanks to this screening, which allows for early management, the prognosis of PKU has been transformed and, although neurological or behavioral problems may arise, these patients are living normally today.
Référence
Med Sci (Paris). 2021 May;37(5):468-473
