Biallelic Variants in KMO Cause a Novel Form of Congenital NAD Deficiency
Nathalie M. Aceves-Ewing, Nanbing Li-Villarreal, Xiaohui Li, Seema R. Lalani, Jill A. Rosenfeld, Varduhi Petrosyan, Aleksandar Milosavljevic, Angelina Gaspero, Denise G. Lanza, Audrey E. Christiansen, Amrit Koirala, Abu Hena Mostafa Kamal, Nagireddy Putluri, Cristian Coarfa, Bao Tran, , Lindsay Catherine Burrage
The paper identifies biallelic KMO variants as a novel cause of congenital NAD deficiency and shows gene x environment interactions in a mouse model.
medRxiv · Aug 27, 2026 · PreprintGenetic & Genomic Medicine