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This enzyme generates phospho\u2010ribosyl\u2010pyrophosphate (PRPP), which is utilized in the synthesis of purines, nicotinamide adenine dinucleotide (NAD), and NAD phosphate (NADP), among other metabolic pathways. Arts syndrome, or severe PRPS1 deficiency, is an X\u2010linked condition characterized by congenital sensorineural hearing loss, optic atrophy, developmental delays, ataxia, hypotonia, and recurrent infections that can cause progressive clinical decline, often resulting in death before 5\u2009years of age. Supplementation of the purine and NAD pathways outside of PRPP\u2010dependent reactions is a logical approach and has been reported in a handful of patients, two with S\u2010adenosylmethionine (SAMe) and one with SAMe and nicotinamide riboside (NR). We present the clinical course of a fourth Arts syndrome patient who was started on therapy and review previously reported patients. All patients had stability or improvement of symptoms, suggesting that SAMe and NR can be a treatment option in Arts syndrome, though further studies are warranted.<\/jats:p>","DOI":"10.1002\/jmd2.12395","type":"journal-article","created":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T08:15:25Z","timestamp":1693556125000},"page":"417-423","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["S\u2010adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature review"],"prefix":"10.1002","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4219-8639","authenticated-orcid":false,"given":"Angela","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Genetics and Genomic Medicine Washington University  Saint Louis Missouri 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