NMNAT3 deficiency: a novel red blood cell enzymopathy causing hemolysis by altering NAD levels and glycolysis
Year: 2025
Type: article
Study design: Case Report
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.
Source: Blood
Institutions: University Medical Center Utrecht, Utrecht University
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $5,500
OpenAlex ID: W4415258908