Journal article

Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)

Nina Lenherr, John Christodoulou, John Duley, Doreen Dobritzsch, Lynette Fairbanks, Alexandre N Datta, Isabel Filges, Nicolas Guertler, Jeroen Roelofsen, Andre BP van Kuilenburg, Claudia Kemper, Erin E West, Gabor Szinnai, Martina Huemer

Molecular Genetics and Metabolism Reports | ELSEVIER | Published : 2021


Arts syndrome or phosphoribosyl-pyrophosphate-synthetase-1 (PRPS1) deficiency is caused by loss-of-function mutations in the PRPS1 gene (Xq22.3). PRPS1 is an initial and essential step for the synthesis of the nucleotides of purines, pyrimidines, and nicotinamide. Classically, affected males present with sensorineural hearing loss, optic atrophy, muscular hypotonia, developmental impairment, and recurrent severe respiratory infections early in life. Treatment of a 3-year old boy with S-adenosylmethionine (SAM) replenished erythrocyte purine nucleotides of adenosine and guanosine, while SAM and nicotinamide riboside co-therapy further improved his clinical phenotype as well as T-cell survival..

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Funding Acknowledgements

We thank our patient and his parents for their cooperation and support. We are grateful for clinical support from our colleagues Sarabel Frey, Anja Palmowski-Wolfe, Benno Rothlisberger, Daniel Trachsel and Andreas Worner and we thank Gunhild Unterstab and Christoph Hess for their help with sample preparation. The research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program.