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

S‐adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature 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), amo...

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Bibliographic Details
Main Authors: Angela Lee, Renatta Knox, Margaret Reynolds, Erin McRoy, Hoanh Nguyen
Format: Article
Language:English
Published: Wiley 2023-11-01
Series:JIMD Reports
Subjects:
Arts syndrome
nicotinamide riboside
phosphoribosylpyrophosphate
PRPP
PRPS1
S‐adenosylmethionine
Online Access:https://doi.org/10.1002/jmd2.12395

Internet

https://doi.org/10.1002/jmd2.12395

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