Article

Novel Pathogenic Variant in a Mild Case of Type B Molybdenum Cofactor Deficiency: Case Report and Literature Review

2024-04-29

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> 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, rapidly fatal form marked by intractable seizures after birth, hyperekplexia, microcephaly and cerebral atrophy, or...

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Literature Corpus work: 45467bae-30aa-50fc-b760-8baa61d61657
DOI: 10.21203/rs.3.rs-4272138/v1

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