2024
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder
Szot J, Cuny H, Martin E, Sheng D, Iyer K, Portelli S, Nguyen V, Gereis J, Alankarage D, Chitayat D, Chong K, Wentzensen I, Vincent-Delormé C, Lermine A, Burkitt-Wright E, Ji W, Jeffries L, Pais L, Tan T, Pitt J, Wise C, Wright H, Andrews I, Pruniski B, Grebe T, Corsten-Janssen N, Bouman K, Poulton C, Prakash S, Keren B, Brown N, Hunter M, Heath O, Lakhani S, McDermott J, Ascher D, Chapman G, Bozon K, Dunwoodie S. A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder. Journal Of Clinical Investigation 2024, 134: e174824. PMID: 38357931, PMCID: PMC10866660, DOI: 10.1172/jci174824.Peer-Reviewed Original ResearchConceptsCongenital NAD deficiency disorderNicotinamide adenine dinucleotideBiallelic loss-of-function variantsLoss-of-function variantsPrecursor supplementationNAD precursor supplementationStructures modelled in silicoNonredundant enzymesMetabolic signaturesNAD metabolomeNicotinamide adenine dinucleotide levelsDeficiency disordersPrevent adverse pregnancy outcomesSynthesis pathwayAdverse pregnancy outcomesModel in silicoNAD precursorsMetabolic blockEmbryonic developmentImproving clinical diagnosticsAdenine dinucleotideAbsence of malformationsPregnancy outcomesCongenital malformationsMalformations
2018
A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death
Penque BA, Su L, Wang J, Ji W, Bale A, Luh F, Fulbright RK, Sarmast U, Sega AG, Konstantino M, Spencer-Manzon M, Pierce R, Yen Y, Lakhani SA. A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death. European Journal Of Medical Genetics 2018, 62: 103574. PMID: 30439532, DOI: 10.1016/j.ejmg.2018.11.008.Peer-Reviewed Original Research