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State-of-the-art 2023 on gene therapy for phenylketonuria. Martinez M, Harding CO, Schwank G, Thöny B. J Inherit Metab Dis. 2024 Jan;47(1):80-92. doi: 10.1002/jimd.12651. Epub 2023 Aug 3. PMID: 37401651; PMCID: PMC10764640
Phenylketonuria (PKU) is a genetic metabolic disorder that increases the body's levels of the amino acid phenylalanine, which can build up to harmful levels if left untreated. Patients with PKU are treated with dietary therapy. However, these dietary restrictions are complicated and often difficult to follow, highlighting the need for new therapies and ultimately a cure.
In this review paper, researchers summarize, compare, and evaluate state-of-the-art gene therapy approaches for PKU. Methods include recombinant viral and non-viral vector delivery; gene addition; genome, gene, or base editing; and gene insertion or replacement. A list of current and planned clinical trials for PKU gene therapy is also included.
Authors note that this review can help advance scientific understanding and efficacy testing, paving the way for safe and efficient therapies for patients with PKU.
Phenylketonuria. van Spronsen FJ, Blau N, Harding C, Burlina A, Longo N, Bosch AM. Nat Rev Dis Primers. 2021 May 20;7(1):36. doi: 10.1038/s41572-021-00267-0.
Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth. Manzoni F, Salvatici E, Burlina A, Andrews A, Pasquali M, Longo N. Mol Genet Metab. 2020 Dec;131(4):380-389. doi: 10.1016/j.ymgme.2020.11.004. Epub 2020 Nov 18. PMID: 33234470; PMCID: PMC7749858.
Prospects for Cell-Directed Curative Therapy of Phenylketonuria (PKU). Harding CO. Mol Front J. 2019 Dec;3(2):110-121. doi: 10.1142/s2529732519400145. Epub 2019 Dec 12. PMID: 32524084; PMCID: PMC7286632.