O03: Mitochondrial function in fibroblasts from a patient with congenital NAD deficiency due to biallelic NADSYN1 variants

Genetics in Medicine Open 2026 Open access

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Authors: Bianca Seminotti, Kaitlyn Bloom, Mora Ghattes, Kara Sampson, Julia Keisling, RaeLynn Forsyth, Steven F. Dobrowolski, Jerry Vockley
DOI: 10.1016/j.gimo.2026.104288
Cited by: 0

Abstract

Inborn errors of nicotinamide adenine dinucleotide (NAD+) metabolism are a very rare group of disorders that includes NAD synthetase 1 (NADSYN1) deficiency (OMIM 608285), as well as 3-hydroxyanthranilate 3,4-dioxygenase (HAAO) deficiency, kynureninase (KYNU) deficiency and nicotinamide mononucleotide adenylyltransferase 1 (NMNAT1) deficiency. These disorders can be clinically heterogeneous though cardiac, renal, vertebral, and limb anomalies mimicking VACTERL association are the characteristic features that individuals who have biallelic pathogenic variants in NADSYN1, HAAO, and KYNU genes have in common.

Fields of Study & Subjects

Mitochondrial Function and Pathology Sirtuins and Resveratrol in Medicine Metabolism and Genetic Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104288–104288
Publication date
1 January 2026
Language
EN