NMNAT3 deficiency: a novel red blood cell enzymopathy causing hemolysis by altering NAD levels and glycolysis
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.
Article Details
Authors (8)
Titine J. J. Ruiter
1Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
Brigitte A. van Oirschot
2Red Blood Cell Research Group, Central Diagnostic Laboratory-Research, University Medical Center Utrecht, Utrecht, The Netherlands
Esmé Waanders
3Genome Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
Klaas Koop
4Department of Pediatrics, Metabolic Diseases, University Medical Center Utrecht, Utrecht, The Netherlands
Wouter W. van Solinge
2Red Blood Cell Research Group, Central Diagnostic Laboratory-Research, University Medical Center Utrecht, Utrecht, The Netherlands
Richard van Wijk
Judith J. M. Jans
1Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
Marije Bartels
5Center for Benign Hematology, Thrombosis and Hemostasis, Van Creveld Clinic, University Medical Center Utrecht, Utrecht, The Netherlands