MRI Findings and Outcome in Molybdenum Cofactor Deficiency
Pediatric Neurology Briefs, 2011 Researchers at Great Ormond Street Hospital, London, UK examined the clinical, brain MRI, biochemical, genetic, and EEG features and outcome in 8 children with a diagnosis of molybdenum cofactor deficiency seen over a 10-year period.
J Gordon Millichap
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Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2 [PDF]
Human Mutation, 2010 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 is called "universal molybdenum cofactor." In humans, four molybdoenzymes are known: aldehyde oxidase, mitochondrial amidoxime reducing component (mARC ...
Reiss, Jochen, Hahnewald, Rita
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Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review [PDF]
BMC Medical GenomicsBackground Molybdenum cofactor deficiency (MoCD) is a rare metabolic disorder caused by pathogenic variants in the highly conserved biosynthetic pathway of molybdenum cofactor (MoCo), resulting in sulfite intoxication.
Morgan Kinsinger +2 more
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Prenatal Brain Disruption in Molybdenum Cofactor Deficiency
Journal of Child Neurology, 2011 Molybdenum cofactor deficiency is a rare autosomal recessive disorder that may present during the neonatal period with intractable seizures and be mistaken for ischemic encephalopathy. We describe a patient whose prenatal sonography at 35 weeks’ gestation revealed diffuse brain damage with multiple subcortical cavities, ventriculomegaly, dysgenesis of ...
Nirit, Carmi-Nawi +5 more
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Molybdenum cofactor deficiency type A: Prenatal monitoring using MRI [PDF]
European Journal of Paediatric Neurology, 2018 Molybdenum cofactor deficiency type A (MoCD-A) is an inborn error of metabolism presenting early after birth with severe seizures. Recently, experimental substitution treatment with cyclic pyranopterin monophosphate (cPMP) has become available. Because prenatal data is scarce, we report data of prenatal Magnetic Resonance Imaging (MRI) in two cases ...
Lubout, Charlotte M A +8 more
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Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B [PDF]
CEN Case Reports, 2021 Aadil Kakajiwala +2 more
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A neonate with molybdenum cofactor deficiency type B. [PDF]
Transl Pediatr, 2021 Molybdenum cofactor deficiency (MoCD) is an autosomal recessive disease which leads to a combined deficiency of molybdenum cofactor dependent enzymes. There are four different genes in molybdenum cofactor biosynthesis, MOCS1, MOCS2, MOCS3, GEPH. The patients with MOCS2 homozygous mutation who onset in the neonatal period always have severe seizures ...
Lin Y +6 more
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Increased Survival in Patients With Molybdenum Cofactor Deficiency Type A Treated With Cyclic Pyranopterin Monophosphate [PDF]
Journal of Inherited Metabolic DiseaseRonen Spiegel +2 more
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The History of Animal and Plant Sulfite Oxidase—A Personal View
Molecules, 2023 Sulfite oxidase is one of five molybdenum-containing enzymes known in eukaryotes where it catalyzes the oxidation of sulfite to sulfate. This review covers the history of sulfite oxidase research starting out with the early years of its discovery as a ...
Ralf R. Mendel, Günter Schwarz
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Timing of cerebral damage in molybdenum cofactor deficiency: A meta-analysis of case reports [PDF]
Genetics in Medicine OpenFerreira EA +10 more
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