TY - JOUR
T1 - Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)
AU - Lenherr, Nina
AU - Christodoulou, John
AU - Duley, John
AU - Dobritzsch, Doreen
AU - Fairbanks, Lynette
AU - Datta, Alexandre N.
AU - Filges, Isabel
AU - Gürtler, Nicolas
AU - Roelofsen, Jeroen
AU - van Kuilenburg, André B. P.
AU - Kemper, Claudia
AU - West, Erin E.
AU - Szinnai, Gabor
AU - Huemer, Martina
N1 - Funding Information: 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 Röthlisberger, Daniel Trachsel and Andreas Wörner 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 . Publisher Copyright: © 2021 The Authors
PY - 2021/3/1
Y1 - 2021/3/1
N2 - 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 and function.
AB - 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 and function.
UR - http://www.scopus.com/inward/record.url?scp=85099614850&partnerID=8YFLogxK
U2 - https://doi.org/10.1016/j.ymgmr.2021.100709
DO - https://doi.org/10.1016/j.ymgmr.2021.100709
M3 - Article
C2 - 33532242
SN - 2214-4269
VL - 26
JO - Molecular Genetics and Metabolism Reports
JF - Molecular Genetics and Metabolism Reports
M1 - 100709
ER -