Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study
@article{Schwahn2015EfficacyAS, title={Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study}, author={Bernd C Schwahn and Francjan J. van Spronsen and Abdelhak Belaidi and Stephen Bowhay and John Christodoulou and Terry G. J. Derks and Julia B. Hennermann and Elisabeth Jameson and Kai K{\"o}nig and Tracy L Mcgregor and Esperanza Font-Montgomery and José Angel Santamaria-Araujo and Saikat Santra and Mamta Vaidya and Anne Vierzig and Evangeline Wassmer and Ilona Weis and Flora Y. Wong and Alex Veldman and Gunter Schwarz}, journal={The Lancet}, year={2015}, volume={386}, pages={1955-1963} }
94 Citations
Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system
- MedicineCold Spring Harbor molecular case studies
- 2020
It is suggested that to achieve optimal reductions in morbidity and mortality, rWGS must be implemented within a comprehensive rapid precision medicine system (CRPM).
Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B
- MedicineCEN Case Reports
- 2021
Molybdenum cofactor deficiencies should be considered in neonates with early-onset seizures, hypotonia, and feeding difficulties, and Screening with serum uric acid levels and empiric treatment may be considered while awaiting genetic results.
A neonate with molybdenum cofactor deficiency type B.
- MedicineTranslational pediatrics
- 2021
In conclusion, the patients with MOCS2 who onset in neonatal period often shows uncontrolled seizure, feeding difficulties, hypotonia and early death, and the MRI of them shows severe encephalomalacia.
Expanding the Phenotype of Molybdenum Cofactor Deficiency in Neonates: Report of Two Cases
- MedicineJournal of Pediatric Neurology
- 2021
A preterm baby admitted with features of sepsis, poor perfusion, and seizures who later developed tone abnormalities and feeding difficulty and a term baby who presented with stridor, respiratory distress, and metabolic acidosis followed by intractable seizures and encephalopathy are presented.
Critical appraisal of genotype assessment in molybdenum cofactor deficiency
- Biology, MedicineJournal of Inherited Metabolic Disease
- 2017
The severity of the genotype assessed by in silico prediction and further classification explained survival in molybdenum cofactor deficiency may therefore be considered a confounder for the outcome of therapeutic clinical trials requiring adjustment in the clinical trial design or analysis.
Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients.
- Medicine, BiologyEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
- 2016
A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation
- BiologyJournal of Inherited Metabolic Disease
- 2018
A patient with an unusual late disease onset and mild phenotype is reported, characterized by a lack of seizures, normal early development, a decline triggered by febrile illness and a subsequent dystonic movement disorder, which demonstrates an unusual mechanism of translation re-initiation in the MOCS1 transcript being sufficient to partially protect the patient from the most severe symptoms of MoCD.
Isolated sulfite oxidase deficiency
- Medicine, BiologyJournal of Inherited Metabolic Disease
- 2017
Measurement of homocysteine in plasma, amino acids in plasma/urine, and sulfite in fresh urine supports the diagnosis of ISOD and analysis of uric acid and oxypurines (urine) is useful to rule out MoCD.
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Human Moco deficiency is a hereditary metabolic disorder characterized by severe neurodegeneration resulting inEarly childhood death resulting in early childhood death and a first substitution therapy was established.
Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2
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All molybdenum‐containing enzymes other than the bacterial nitrogenase share an identical molybdenum cofactor (MoCo), which is synthesized via a conserved pathway in all organisms and therefore also…