NMNAT3 deficiency: a novel red blood cell enzymopathy causing hemolysis by altering NAD levels and glycolysis
Publication date
2025-12-25
Authors
Ruiter, Titine J J
van Oirschot, Brigitte A
Waanders, Esme
Koop, Klaas
Van Solinge, Wouter W.
Van Wijk, Richard
Jans, Judith J.M.
Bartels, Marije
Editors
Advisors
Supervisors
Document Type
Article
Metadata
Show full item recordCollections
License
taverne
Abstract
Abstract: We describe, to our knowledge, the first case of nicotinamide mononucleotide adenylyl transferase 3 (NMNAT3) deficiency, a novel red cell enzymopathy that causes reduced NAD levels and mild hemolytic anemia, which improved upon NAD precursor supplementation. We therefore propose testing for NMNAT3 variants in unexplained hereditary hemolytic anemia.
Keywords
Taverne, Journal Article
Citation
Ruiter, T J J, van Oirschot, B A, Waanders, E, Koop, K, Van Solinge, W W, van Wijk, R, Jans, J J M & Bartels, M 2025, 'NMNAT3 deficiency : a novel red blood cell enzymopathy causing hemolysis by altering NAD levels and glycolysis', Blood, vol. 146, no. 26, pp. 3246-3249. https://doi.org/10.1182/blood.2025030958