https://orcid.org/0009-0008-3656-7718
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.
Subjects:
Red Cells, Iron, and Erythropoiesis
References
1.
Koralkova
P
, Van Solinge
WW
, Van Wijk
R
. Rare hereditary red blood cell enzymopathies associated with hemolytic anemia – pathophysiology, clinical aspects, and laboratory diagnosis
. Int J Lab Hematol
. 2014
;36
(3
):388
-397
.2.
Van Wijk
R
, Van Solinge
WW
. The energy-less red blood cell is lost: erythrocyte enzyme abnormalities of glycolysis
. Blood
. 2005
;106
(13
):4034
-4042
.3.
Lau
C
, Niere
M
, Ziegler
M
. The NMN/NaMN adenylyltransferase (NMNAT) protein family
. Front Biosci
. 2009
;14
(2
):410
-431
.4.
Di Stefano
M
, Galassi
L
, Magni
G
. Unique expression pattern of human nicotinamide mononucleotide adenylyltransferase isozymes in red blood cells
. Blood Cells Mol Dis
. 2010
;45
(1
):33
-39
.5.
Zhang
X
, Kurnasov
OV
, Karthikeyan
S
, Grishin
NV
, Osterman
AL
, Zhang
H
. Structural characterization of a human cytosolic NMN/NaMN adenylyltransferase and implication in human NAD biosynthesis
. J Biol Chem
. 2003
;278
(15
):13503
-13511
.6.
Hikosaka
K
, Ikutani
M
, Shito
M
, et al. Deficiency of nicotinamide mononucleotide adenylyltransferase 3 (Nmnat3) causes hemolytic anemia by altering the glycolytic flow in mature erythrocytes
. J Biol Chem
. 2014
;289
(21
):14796
-14811
.© 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.
2025
You do not currently have access to this content.
This feature is available to Subscribers Only
Sign In or Create an Account Close Modal