Tyrosine supplementation with high-protein diet as a therapeutic strategy for YARS1 deficiency
Given the positive cost/risk-benefit ratio, we advocate therapeutic trials with tyrosine supplementation and high-protein diet for YARS1 deficiency. Further studies should aim to determine variant-specific differences and long-term outcomes in comparison with natural history.
Authors
- P. Rohrlich
- Desirée E.C. Smith (ORCID: https://orcid.org/0000-0003-2053-3392)
- Tobias Linden (ORCID: https://orcid.org/0000-0003-3896-262X)
- Gajja Sophi Salomons (ORCID: https://orcid.org/0000-0003-2509-3648)
- Karin Konzett (ORCID: https://orcid.org/0000-0002-8818-9228)
- Sabine Hoffjan
- Sabine Rudnik
- Luisa Averdunk (ORCID: https://orcid.org/0000-0003-0719-1607)
- Marisa I. Mendes (ORCID: https://orcid.org/0000-0002-6617-3698)
- Hanna Mandel
- Ertan Mayatepek
- Nadra Nasser Samra
- Thomas Lücke
- Melanie Herrmann
- Pedro Arsenio Nunez Duran
- Felix Distelmaier
- Julien Neveu
Institutions
- Innsbruck Medical University (AT)
- Rebecca Sieff Hospital (IL)
- Landeskrankenhaus Feldkirch (AT)
- Düsseldorf University Hospital (DE)
- Amsterdam Neuroscience (NL)
- Klinikum Oldenburg (DE)
- Fondation Lenval (FR)
- St. Josef-Hospital (DE)
- Heinrich Heine University Düsseldorf (DE)
- University of Amsterdam (NL)
- Ruhr University Bochum (DE)
Publication Details
- Journal
- Genetics in Medicine
- Published
- 2026-01-07
- DOI
- https://doi.org/10.1016/j.gim.2025.101682
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00