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[Phenylketonuria, from diet to gene therapy]

Arnaud Wiedemann1, Abderrahim Oussalah2, Élise Jeannesson2

  • 1Centre de référence des maladies métaboliques, Service de pédiatrie, CHRU de Nancy, 54000 Nancy, France - Inserm UMR_S 1256 (NGERE, Nutrition Génétique et Exposition aux Risques Environnementaux), Faculté de médecine de Nancy, Université de Lorraine, 54000 Nancy, France.

Medecine Sciences : M/S
|August 22, 2020
PubMed

Insights

Phenylketonuria (PKU) management has improved with early screening and diet. New treatments like gene therapy offer hope for better phenylketonuria (PKU) patient outcomes, addressing challenges with current therapies.

Area of Science:

  • Biochemistry
  • Genetics
  • Pharmacology

Background:

  • Phenylketonuria (PKU) is a genetic disorder.
  • Neonatal screening and low-phenylalanine diets have improved PKU prognosis.
  • Lifelong dietary management presents significant compliance challenges.

Purpose of the Study:

  • To review the pathophysiology of phenylketonuria (PKU).
  • To discuss current and emerging therapeutic strategies for PKU.
  • To evaluate the effectiveness and limitations of existing PKU treatments.

Main Methods:

  • Literature review of PKU pathophysiology.
  • Analysis of current PKU treatments (dietary, sapropterin, enzyme therapy).
  • Exploration of novel therapeutic modalities, including gene therapy.

Main Results:

  • Sapropterin (BH4) benefits a subset of PKU patients.
  • Subcutaneous enzyme therapy shows promise but has side effects.
  • Gene therapy represents a significant area of ongoing PKU research.

Conclusions:

  • Despite advances, PKU management requires improved patient compliance and efficacy.
  • Emerging therapies, particularly gene therapy, hold potential for transformative PKU treatment.
  • Further research is crucial to overcome PKU treatment limitations.

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