Genetics in medicine : official journal of the American College of Medical Genetics
Tyrosine supplementation with high-protein diet as a therapeutic strategy for YARS1 deficiency.
Luisa Averdunk, Karin Konzett, Hanna Mandel, Tobias Linden, Julien Neveu, Pierre Rohrlich, Melanie Herrmann, Thomas Lücke, Sabine Hoffjan, Pedro Arsenio Nunez Duran, Nadra Nasser Samra, Sabine Rudnik, Desiree E C Smith, Ertan Mayatepek, Gajja S Salomons
Published: 202610.1016/j.gim.2025.101682
Abstract
PURPOSE: Biallelic pathogenic variants in YARS1 cause tyrosyl-tRNA synthase (TyrRS) deficiency that compromises the loading of tyrosine to its tRNA. YARS1 deficiency is characterized by impairment of neurological development, growth, liver function a…
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