NMNAT3 deficiency: a novel red blood cell enzymopathy causing hemolysis by altering NAD levels and glycolysis
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.
Authors
- Titine J.J. Ruiter
- Marije Bartels (ORCID: https://orcid.org/0000-0001-9685-1755)
- Klaas Koop (ORCID: https://orcid.org/0000-0003-4027-9723)
- Wouter W. van Solinge (ORCID: https://orcid.org/0000-0003-2867-2581)
- Esmé Waanders (ORCID: https://orcid.org/0000-0002-2466-953X)
- Richard van Wijk (ORCID: https://orcid.org/0000-0002-8236-8292)
- Judith Jans (ORCID: https://orcid.org/0000-0003-0960-6263)
- Brigitte A. van Oirschot
Institutions
- Utrecht University (NL)
- University Medical Center Utrecht (NL)
- Netherlands Metabolomics Centre (NL)
Publication Details
- Journal
- Blood
- Published
- 2025-10-16
- DOI
- https://doi.org/10.1182/blood.2025030958
- Primary Topic
- Erythrocyte Function and Pathophysiology
- Type
- article
- Field-Weighted Citation Impact
- 0.00