Treatment of ARS deficiencies with specific amino acids.
Gautam KokLaura TsengImre F ScheneMonique E DijsselhofGajja SalomonsMarisa I MendesDesiree E C SmithArnaud WiedemannMarie CantonFrançois FeilletTom J de KoningMegan BootheJoy DeanRachel KasselElise A FerreiraMargreet van den BornEdward E S NieuwenhuisHolger RehmannSuzanne W J Terheggen-LagroClara D M van KarnebeekSabine A FuchsPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
For these four ARS deficiencies, we observed a common disease mechanism of episodic insufficient aminoacylation to meet translational demands and illustrate the power of amino acid supplementation for the expanding ARS patient group. Moreover, we provide a strategy for personalized preclinical functional evaluation.