ArticleThe application of clinical genetics2020
Molybdenum Cofactor Deficiency: Mega Cisterna Magna in Two Consecutive Pregnancies and Review of the Literature.
Article in The application of clinical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 11 citations in OpenAlex.
- Prenatal diagnosis of molybdenum cofactor deficiency.Case reports in perinatal medicine · 2026Article
- Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis.JIMD reports · 2026Article
- Early Neonatal Fosdenopterin Treatment for Molybdenum Cofactor Deficiency Type A: New Insights into Its Natural History and Potential Role for Fetal Therapy.Journal of clinical medicine · 2025Article
- Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports.Genetics in medicine open · 2024Article
- Sulfite Impairs Bioenergetics and Redox Status in Neonatal Rat Brain: Insights into the Early Neuropathophysiology of Isolated Sulfite Oxidase and Molybdenum Cofactor Deficiencies.Cellular and molecular neurobiology · 2023Article
- A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case report.Frontiers in neurology · 2023Article
- Ocular characteristics of a 6-year-Old boy with molybdenum cofactor deficiency type B.American journal of ophthalmology case reports · 2022Article
- Is There a Connection between the Metabolism of Copper, Sulfur, and Molybdenum in Alzheimer's Disease? New Insights on Disease Etiology.International journal of molecular sciences · 2022Review
- Molybdenum cofactor deficiency: A natural history.Journal of inherited metabolic disease · 2022Article
- [Molybdenum cofactor deficiency caused byZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2021Article
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Authors and funding
6 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
The molybdenum cofactor deficiency is an autosomal recessive disease, characterized by rapidly progressive and severe neurological damage that mimics a hypoxic-ischemic encephalopathy due to the accumulation of toxic metabolites that cause rapid neurodegeneration after the delivery. It is eventually lethal, in a similar way to the rare isolated sulfite oxidase deficiency. This serious pathology usually causes death in the immediate neonatal period in the more severe variants. We report a case of two consecutive pregnancies with enlarged cisterna magna as the only prenatal pathological finding since 26 weeks of gestation (WG) and the subsequent death of the newborns in the first week after birth. After the second pregnancy, we reached the diagnosis of molybdenum cofactor deficiency due to MOCS1 gene mutation. According to the cases reported in the literature, this is the case with the earliest neuroimage prenatal findings.
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