Adult patient diagnosed with NADSYN1 associated congenital NAD deficiency and analysis of NAD levels to be published in: European Journal of Medical Genetics
E Erbs, CL Brasen, AM Lund, M Rasmussen - European Journal of Medical …, 2023 - Elsevier
Introduction Nicotinamide adenine dinucleotide (NAD) is an essential cosubstrate/coenzyme
in multiple cellular redox processes and a substrate in several non-redox reactions.
NADSYN1 encodes NAD synthetase 1, an enzyme in the NAD de novo synthesis pathway
and the Preiss-Handler pathway, and biallelic pathogenic variants causes NAD deficiency
associated with vertebral, cardiac, renal and limb defects. Szot et al. and Kortbawi et al. have
reported a total of seven patients with NADSYN1 associated congenital NAD deficiency …
in multiple cellular redox processes and a substrate in several non-redox reactions.
NADSYN1 encodes NAD synthetase 1, an enzyme in the NAD de novo synthesis pathway
and the Preiss-Handler pathway, and biallelic pathogenic variants causes NAD deficiency
associated with vertebral, cardiac, renal and limb defects. Szot et al. and Kortbawi et al. have
reported a total of seven patients with NADSYN1 associated congenital NAD deficiency …