ArticleCEN case reports2021
Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B.
Article in CEN case reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 18 citations in OpenAlex.
- Genetic causes of nephrolithiasis and nephrocalcinosis in a pediatric population in Saudi Arabia.Pediatric nephrology (Berlin, Germany) · 2026Article
- Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review.BMC medical genomics · 2024Review
- Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review.Molecular genetics and metabolism reports · 2024Review
- A case report of MoCD etiology in a neonate: A novel homozygous MoCS2 variant.Clinical case reports · 2024Article
- Review of childhood genetic nephrolithiasis and nephrocalcinosis.Frontiers in genetics · 2024Review
- Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases.Molecular genetics and metabolism · 2023Article
- Molybdenum Cofactor Deficiency in Humans.Molecules (Basel, Switzerland) · 2022Review
- Ocular characteristics of a 6-year-Old boy with molybdenum cofactor deficiency type B.American journal of ophthalmology case reports · 2022Article
- Review
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Molybdenum cofactor is essential for the activity of multiple enzymes including xanthine dehydrogenase. Molybdenum cofactor deficiencies are rare inborn errors of metabolism. Clinically, they present with intractable seizures, axial hypotonia, and hyperekplexia. They further develop cerebral atrophy, microcephaly, global developmental delay and ectopia lentis. We report a 5-year-old female with clinically, biochemically and genetically confirmed molybdenum cofactor deficiency type B due to compound heterozygous pathogenic variants in the molybdenum cofactor synthesis 2 gene found on whole exome sequencing. The xanthine stones were a key clue towards diagnosis. No mutation was detected in XDH gene. Implementation of a low-purine diet, urine alkalization and hydration lead to a near complete decrease in stone burden. The patient received pyridoxine supplementation with improvement in energy levels and attentiveness. Despite reports of high mortality at a young age, our patient was 9 years old at the time of this writing. Molybdenum cofactor deficiencies should be considered in neonates with early-onset seizures, hypotonia, and feeding difficulties. Screening with serum uric acid levels and empiric treatment may be considered while awaiting genetic results.
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