New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.

doi:10.1002/humu.24211

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Article

New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.

Human mutation - 1 Jul 2021

Szot Justin O, Slavotinek Anne, Chong Karen, Brandau Oliver, Nezarati Marjan, Cueto-González Anna M, Patel Millan S, Devine Walter P, Rego Shannon, Acyinena Alicia P, Shannon Patrick, Myles-Reid Diane, Blaser Susan, Mieghem Tim V, Yavuz-Kienle Halenur, Skladny Heyko, Miller Kristen, Riera Miereia D T, Martínez Silvia A, Tizzano Eduardo F, Dupuis Lucie, James Stavropoulos Dimitri, McNiven Vanda, Mendoza-Londono Roberto, Elliott Alison M, Phillips Robert S, Chapman Gavin, Dunwoodie Sally L

Abstract excerpt

Nicotinamide adenine dinucleotide (NAD) is an essential coenzyme involved in over 400 cellular reactions. During embryogenesis, mammals synthesize NAD de novo from dietary l -tryptophan via the kynurenine pathway. Biallelic, inactivating variants in three genes encoding enzymes of this biosynthesis pathway (KYNU, HAAO, and NADSYN1) disrupt NAD synthesis and have been identified in patients with multiple...

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PMID: 33942433
DOI: 10.1002/humu.24211
PMCID: PMC8238843

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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