ArticleGenetics in medicine : official journal of the American College of Medical Genetics2015
Ultra-orphan diseases: a quantitative analysis of the natural history of molybdenum cofactor deficiency.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 2 of them syntheses that pooled it.
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Who cites it
28 citing papers in PubMed, 2 syntheses or guidelines pooled it, 57 citations in OpenAlex.
- A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease features.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Pooled it
- Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Pooled it
- Trial Readiness: Understanding the Natural History of Rare Diseases.Journal of inherited metabolic disease · 2025Review
- Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate.Journal of inherited metabolic disease · 2025Article
- Metal Ion Signaling in Biomedicine.Chemical reviews · 2025Review
- Ultra-orphan diseases: A cross-sectional quantitative analysis of the natural history of isolated sulfite oxidase deficiency.PloS one · 2025Article
- Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review.BMC medical genomics · 2024Review
- Systematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published cases.Orphanet journal of rare diseases · 2024Article
- Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports.Genetics in medicine open · 2024Article
- 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
- Molybdenum cofactor deficiency: A natural history.Journal of inherited metabolic disease · 2022Article
- Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B.CEN case reports · 2021Article
- The effect of dietary protein restriction in a case of molybdenum cofactor deficiency withMolecular genetics and metabolism reports · 2021Article
- Case Report: Compound Heterozygous Variants inFrontiers in genetics · 2021Article
- Editorial: Next Generation Sequencing (NGS) for Rare Diseases Diagnosis.Frontiers in genetics · 2021Article
- Treating epilepsy with options other than antiepileptic medications.Neurosciences (Riyadh, Saudi Arabia) · 2020Review
- Disease awareness or subtle product placement? Orphan diseases featured in the television series "House, M.D." - a cross-sectional analysis.BMC medical ethics · 2020Article
- Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system.Cold Spring Harbor molecular case studies · 2020Article
- Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature.Molecular genetics & genomic medicine · 2019Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeExperimental treatment with substrate replacement was successfully performed in single cases with molybdenum cofactor deficiency type A. The objective of this study was to quantitate the yet undefined natural history in untreated patients to ultimately benefit knowledge in experimental treatments in the future.
methodsSystematic analysis of published cases with molybdenum cofactor deficiency. The main outcome measures were survival, initial cardinal disease features at onset, and diagnostic delay.
resultsThe median survival for the overall population was 36 months. Initial cardinal disease features at onset were seizures (72%) as well as feeding difficulties (26%) and hypotonia (11%). In addition, developmental delay (9%), hemiplegia (2%), lens dislocation (2%), and hyperreflexia (1%) were reported. The median age at onset of the disease was the first day of life; the median age at diagnosis was 4.5 months. The median time to diagnosis (diagnostic delay) was 89 days.
conclusionMolybdenum cofactor deficiency has its onset during the neonatal period and infancy. There is considerable diagnostic delay. Although seizures were the most frequent initial cardinal sign, molybdenum cofactor deficiency should be considered as a differential diagnosis in patients presenting with hypotonia, developmental delay, or feeding difficulties. The survival data will inform further natural-history and therapeutic studies.
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