ArticleMolecular genetics & genomic medicine2019
Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 31 citations in OpenAlex.
- Two mild phenotype molybdenum cofactor deficiency patients with novel MOCS2 mutation and immunological treatment after COVID-19 infection.BMC neurology · 2026Article
- Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review.BMC medical genomics · 2024Review
- Investigation of structural and neurobiochemical differences in brains from high-performance and native hen breeds.Scientific reports · 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
- 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
- Neuroimaging Pearls from the MDS Congress Video Challenge. Part 1: Genetic Disorders.Movement disorders clinical practice · 2022Review
- Microcephaly in Neurometabolic Diseases.Children (Basel, Switzerland) · 2022Review
- [Molybdenum cofactor deficiency caused byZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2021Article
- The effect of dietary protein restriction in a case of molybdenum cofactor deficiency withMolecular genetics and metabolism reports · 2021Article
- Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in theDiagnostics (Basel, Switzerland) · 2020Article
- Treating epilepsy with options other than antiepileptic medications.Neurosciences (Riyadh, Saudi Arabia) · 2020Review
- Molybdenum Cofactor Deficiency: Mega Cisterna Magna in Two Consecutive Pregnancies and Review of the Literature.The application of clinical genetics · 2020Article
- Familial deep cavitating state with a glutathione metabolism defect.Annals of clinical and translational neurology · 2019Article
- Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMolybdenum cofactor deficiency (MoCD) is a rare autosomal-recessive disorder that results in the combined deficiency of molybdenum-dependent enzymes. Four different genes are involved in Molybdenum cofactor biosynthesis: MOCS1, MOCS2, MOCS3, and GEPH. The classical form manifests in the neonatal period with severe encephalopathy, including intractable seizures, MRI changes that resemble hypoxic-ischemic injury, microcephaly, and early death. To date, an atypical phenotype with late-onset has been reported in the literature in 13 patients.
methodsWe describe a late-onset and a relatively mild phenotype in a patient with MOCS2 homozygous mutation.
resultsPyramidal and extrapyramidal signs are recognized in those patients, often exacerbated by intercurrent illness. Expressive language is usually compromised. Neurological deterioration is possible even in adulthood, probably due to accumulation of sulfite with time.
conclusionSulfite inhibition of mitochondrial metabolism could be responsible for the ischemic lesions described in patients with MoCD or alternatively could predispose the brain to suffer an ischemic damage through the action of other insults, for instance intercurrent illness. It is possible that sulfite accumulation together with other external triggers, can lead to neurological deterioration even in adulthood. The role of other factors involved in clinical expression should be investigated to establish the reason for phenotypic variability in patients with the same mutation.
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