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Article

Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review.

BMC medical genomics - 18 Dec 2024

Kinsinger Morgan, Ivanisevic Jelena, Mithal Divakar S

Abstract excerpt

BACKGROUND: Molybdenum cofactor deficiency (MoCD) is a rare metabolic disorder caused by pathogenic variants in the highly conserved biosynthetic pathway of molybdenum cofactor (MoCo), resulting in sulfite intoxication. MoCD may present in a clinically severe, fatal form marked by intractable seizures after birth, hyperekplexia, microcephaly and cerebral atrophy, or a later onset form with a more varied clinical...

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PMID: 39695700
DOI: 10.1186/s12920-024-02027-x
PMCID: PMC11658218

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