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Review
. 2020 Aug-Sep;36(8-9):725-734.
doi: 10.1051/medsci/2020127. Epub 2020 Aug 21.

[Phenylketonuria, from diet to gene therapy]

[Article in French]
Arnaud Wiedemann  1 , Abderrahim Oussalah  2 , Élise Jeannesson  2 , Jean-Louis Guéant  2 , François Feillet  1
Affiliations
Free article
Review

[Phenylketonuria, from diet to gene therapy]

[Article in French]
Arnaud Wiedemann et al. Med Sci (Paris). 2020 Aug-Sep.
Free article

Abstract
in English, French

The prognosis for phenylketonuria (PKU) has been improved by neonatal screening and dietary management via a low-phenylalanine diet. This treatment must be followed throughout life, which induces severe compliance problems. Drug treatment with sapropterin (or BH4) has come to help a reduced percentage of patients who respond to this drug. A subcutaneous enzyme therapy is available in the USA and has obtained European marketing authorization, but generates significant side effects, which limits its effectiveness. New therapeutic options for PKU are currently being developed, in particular gene therapy. The purpose of this article is to take stock of the pathophysiology and the various new therapeutic modalities currently in development.

Title: La phénylcétonurie - De la diététique à la thérapie génique.

Abstract: Le pronostic de la phénylcétonurie (PCU) a été transformé par le dépistage néonatal et la prise en charge diététique via un apport contrôlé en phénylalanine. Ce traitement doit être suivi toute la vie durant, ce qui pose des problèmes de compliances importants. Un traitement médicamenteux par saproptérine (ou BH4) est venu apporter une aide à un pourcentage réduit de patients qui répondent à ce médicament. Une enzymothérapie par voie sous-cutanée est disponible aux États-Unis et a obtenue une AMM européenne, mais génère des effets secondaires importants, ce qui en limite l’efficacité. De nouvelles options thérapeutiques de la PCU sont actuellement en développement, en particulier par thérapie génique. Le but de cet article est de faire le point sur la physiopathologie et sur les différentes nouvelles modalités thérapeutiques actuellement en développement.

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References

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