ArticleEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society2016
Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients.
Article in European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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26 citing papers in PubMed, 48 citations in OpenAlex.
- Two mild phenotype molybdenum cofactor deficiency patients with novel MOCS2 mutation and immunological treatment after COVID-19 infection.BMC neurology · 2026Article
- Monogenic features of urolithiasis: A comprehensive review.Asian journal of urology · 2024Review
- Review of childhood genetic nephrolithiasis and nephrocalcinosis.Frontiers in genetics · 2024Review
- 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
- Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.Archives of medical science : AMS · 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
- Molybdenum cofactor deficiency: A natural history.Journal of inherited metabolic disease · 2022Article
- The genetics of kidney stone disease and nephrocalcinosis.Nature reviews. Nephrology · 2022Review
- Clinical and biochemical spectrum of metabolic cardiomyopathy in Egyptian children.African health sciences · 2022Article
- Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B.CEN case reports · 2021Article
- [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
- Case Report: Electroencephalography in a neonate with isolated sulfite oxidase deficiency - a case report and literature review.HRB open research · 2021Article
- Case Report: Compound Heterozygous Variants inFrontiers in genetics · 2021Article
- Novel Compound Heterozygous Pathogenic Variants inFrontiers in genetics · 2021Article
- Intracranial calcifications in childhood: Part 2.Pediatric radiology · 2020Review
- Delineating the phenotypic spectrum of sulfite oxidase and molybdenum cofactor deficiency.Neurology. Genetics · 2020Article
- Genetics of kidney stone disease.Nature reviews. Urology · 2020Review
- ETHE1 and MOCS1 deficiencies: Disruption of mitochondrial bioenergetics, dynamics, redox homeostasis and endoplasmic reticulum-mitochondria crosstalk in patient fibroblasts.Scientific reports · 2019Article
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10 authors at 4 institutions in 2 countries.
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Abstract
aimMolybdenum cofactor deficiency (MoCD) and Sulfite oxidase deficiency (SOD) are rare autosomal recessive conditions of sulfur-containing amino acid metabolism with overlapping clinical features and emerging therapies. The clinical phenotype is indistinguishable and they can only be differentiated biochemically. MOCS1, MOCS2, MOCS3, and GPRN genes contribute to the synthesis of molybdenum cofactor, and SUOX gene encodes sulfite oxidase. The aim of this study was to elucidate the clinical, radiological, biochemical and molecular findings in patients with SOD and MoCD.
methodsDetailed clinical and radiological assessment of 9 cases referred for neonatal encephalopathy with hypotonia, microcephaly, and epilepsy led to a consideration of disorders of sulfur-containing amino acid metabolism. The diagnosis of six with MoCD and three with SOD was confirmed by biochemical tests, targeted sequencing, and whole exome sequencing where suspicion of disease was lower.
resultsNovel SUOX mutations were detected in 3 SOD cases and a novel MOCS2 mutation in 1 MoCD case. Most patients presented in the first 3 months of life with intractable tonic-clonic seizures, axial hypotonia, limb hypertonia, exaggerated startle response, feeding difficulties, and progressive cystic encephalomalacia on brain imaging. A single patient with MoCD had hypertrophic cardiomyopathy, hitherto unreported with these diseases.
interpretationOur results emphasize that intractable neonatal seizures, spasticity, and feeding difficulties can be important early signs for these disorders. Progressive microcephaly, intellectual disability and specific brain imaging findings in the first year were additional diagnostic aids. These clinical cues can be used to minimize delays in diagnosis, especially since promising treatments are emerging for MoCD type A.
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