TY - JOUR
T1 - NMNAT3 deficiency
T2 - a novel red blood cell enzymopathy causing hemolysis by altering NAD levels and glycolysis
AU - Ruiter, Titine J J
AU - van Oirschot, Brigitte A
AU - Waanders, Esme
AU - Koop, Klaas
AU - Van Solinge, Wouter W
AU - van Wijk, Richard
AU - Jans, Judith J M
AU - Bartels, Marije
N1 - Publisher Copyright:
© 2025 American Society of Hematology. Published by Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.
PY - 2025/12/25
Y1 - 2025/12/25
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/105023886053
U2 - 10.1182/blood.2025030958
DO - 10.1182/blood.2025030958
M3 - Article
C2 - 41100733
SN - 0006-4971
VL - 146
SP - 3246
EP - 3249
JO - Blood
JF - Blood
IS - 26
ER -