S-adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature review

Angela Lee, Renatta Knox, Margaret Reynolds, Erin McRoy, Hoanh Nguyen

Research output: Contribution to journalArticlepeer-review

Abstract

Phospho-ribosyl-pyrophosphate synthetase 1 (PRPS1) deficiency is secondary to loss of function variants in PRPS1. This enzyme generates phospho-ribosyl-pyrophosphate (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-linked 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 years of age. Supplementation of the purine and NAD pathways outside of PRPP-dependent reactions is a logical approach and has been reported in a handful of patients, two with S-adenosylmethionine (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.

Original languageEnglish
Pages (from-to)417-423
Number of pages7
JournalJIMD Reports
Volume64
Issue number6
DOIs
StatePublished - Nov 2023

Keywords

  • Arts syndrome
  • PRPP
  • PRPS1
  • S-adenosylmethionine
  • nicotinamide riboside
  • phosphoribosylpyrophosphate

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