A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.

doi:10.1172/JCI174824

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Article

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.

The Journal of clinical investigation - 15 Feb 2024

Szot Justin O, Cuny Hartmut, Martin Ella Mma, Sheng Delicia Z, Iyer Kavitha, Portelli Stephanie, Nguyen Vivien, Gereis Jessica M, Alankarage Dimuthu, Chitayat David, Chong Karen, Wentzensen Ingrid M, Vincent-Delormé Catherine, Lermine Alban, Burkitt-Wright Emma, Ji Weizhen, Jeffries Lauren, Pais Lynn S, Tan Tiong Y, Pitt James, Wise Cheryl A, Wright Helen, Andrews Israel D, Pruniski Brianna, Grebe Theresa A, Corsten-Janssen Nicole, Bouman Katelijne, Poulton Cathryn, Prakash Supraja, Keren Boris, Brown Natasha J, Hunter Matthew F, Heath Oliver, Lakhani Saquib A, McDermott John H, Ascher David B, Chapman Gavin, Bozon Kayleigh, Dunwoodie Sally L

Abstract excerpt

Nicotinamide adenine dinucleotide (NAD) is essential for embryonic development. To date, biallelic loss-of-function variants in 3 genes encoding nonredundant enzymes of the NAD de novo synthesis pathway - KYNU, HAAO, and NADSYN1 - have been identified in humans with congenital malformations defined as congenital NAD deficiency disorder (CNDD). Here, we identified 13 further individuals with biallelic NADSYN1...

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Identifiers

PMID: 38357931
DOI: 10.1172/JCI174824
PMCID: PMC10866660

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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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