Article

Biallelic Variants in KMO Cause a Novel Form of Congenital NAD Deficiency

2026-08-27

Abstract excerpt

Congenital NAD deficiency disorder (CNDD) is a gene × environment disorder caused by disruptions of the kynurenine pathway. To date, CNDD has been associated with biallelic variants in three kynurenine pathway genes: KYNU, HAAO, and NADSYN1 . We identified two sisters with congenital anomalies overlapping with CNDD who have biallelic variants in a gene encoding a different kynurenine pathway enzyme, KMO. The sur...

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Literature Corpus work: 5613396a-8157-5100-8d65-d107560693e6
DOI: 10.64898/2026.08.24.26360911

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