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Prospects for Cell-Directed Curative Therapy of Phenylketonuria (PKU)

Cary O Harding1

  • 1Department of Molecular and Medical Genetics, Oregon Health & Science University, Mailstop L-103, 3181 Sam Jackson Park Rd., Portland, OR 97239, USA.

Molecular Frontiers Journal
|June 12, 2020
PubMed

Insights

Phenylketonuria (PKU) requires lifelong dietary management, but novel cell-directed therapies like gene therapy offer potential permanent cures. Early intervention is key for treating this metabolic disorder.

Area of Science:

  • Metabolic disorders
  • Genetics
  • Cellular therapies

Background:

  • Phenylketonuria (PKU) is a common inherited metabolic disorder caused by phenylalanine hydroxylase (PAH) deficiency.
  • Current dietary management is lifelong, challenging, and often leads to poor adherence and neuropsychiatric issues in adulthood.

Purpose of the Study:

  • To review the potential and limitations of cell-directed curative treatments for PKU.
  • To explore liver-directed gene therapy and gene editing as permanent treatment options.

Main Methods:

  • Review of existing literature on PKU treatments.
  • Discussion of gene therapy and gene editing modalities.
  • Presentation of a family vignette illustrating PKU diagnosis and treatment needs.

Main Results:

  • Cell-directed therapies, including gene therapy and gene editing, show promise for permanent PKU treatment.
  • Early infancy initiation of these novel therapies is crucial for optimal outcomes.
  • Limitations and challenges associated with these advanced treatments are discussed.

Conclusions:

  • Novel cell-directed treatments offer a potential path to permanently cure PKU, moving beyond traditional dietary restrictions.
  • Further research and development are needed to overcome limitations and establish these therapies for early-infancy treatment.
  • Addressing the lifelong challenges of PKU requires innovative therapeutic strategies.

Keywords:
Gene EditingHepatocyte TransplantationLiver-Directed Gene TherapyPhenylalaninePhenylalanine Hydroxylase DeficiencyPhenylketonuria

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