Results 31 to 40 of about 532,713 (215)
International Journal of Medical Sciences and Academic Research, 2023 INTRODUCTION: We report a infants with the diagnosis of molybdenum cofactor deficiency. The key findings leading to diagnosis were intractable neonatal seizures unresponsive to treatment, craniofacial dysmorphic features, hypotona,low blood uric acid ...
Dr.shruti dhale +3 more
doaj +1 more source
Molybdenum – a scoping review for Nordic Nutrition Recommendations 2023
Food & Nutrition Research, 2023 Molybdenum is an essential element in the form of the molybdenum cofactor (Moco). In humans, Moco is required for four enzymes: xanthine oxidase (XO), aldehyde oxidase, sulfite oxidase (SO), and mitochondrial amidoxime-reducing component (mARC).
Agneta Oskarsson, Maria Kippler
doaj +1 more source
Perioperative Care of a Child With Molybdenum Cofactor Deficiency. [PDF]
J Med CasesMolybdenum is a trace mineral that is a key component of several enzyme systems. In the human body, molybdenum is complexed with a pterin-based molybdenum cofactor (MOCO), to form the active center of molybdenum-based enzymes. MOCO is synthesized in a four-step process involving six proteins, iron, ATP, and copper.
Villalobos EE +3 more
europepmc +3 more sources
Investigation of molybdenum cofactor deficiency due to MOCS2 deficiency in a newborn baby. [PDF]
Meta Gene, 2015 Background: Molybdenum cofactor deficiency (MOCD) is a severe autosomal recessive neonatal metabolic disease that causes seizures and death or severe brain damage.
Edwards M +7 more
europepmc +2 more sources
Molybdenum cofactor biology, evolution and deficiency
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2021 The molybdenum cofactor (Moco) represents an ancient metal‑sulfur cofactor, which participates as catalyst in carbon, nitrogen and sulfur cycles, both on individual and global scale. Given the diversity of biological processes dependent on Moco and their evolutionary age, Moco is traced back to the last universal common ancestor (LUCA), while Moco ...
Simon J, Mayr +2 more
openaire +2 more sources
Child Neurology: Molybdenum cofactor deficiency [PDF]
Neurology, 2015 Molybdenum cofactor deficiency (MoCD) is a rare inherited metabolic disorder characterized by neonatal onset intractable seizures, severe psychomotor retardation, dysmorphic facies, and dislocated ocular lenses.1 A characteristic biochemical profile permits early diagnosis.
Madhu, Nagappa +4 more
openaire +2 more sources
Drosophila Melanogaster as a Model for Molybdo-Flavoenzyme Mediated Protection against Chemical and Physical Stress [PDF]
Aldehyde oxidase (AO) and xanthine oxidoreductase (XOR) are molybdo-flavoenzymes (MFEs) involved in the oxidation of hundreds of endogenous and exogenous aldehydes and N-heterocyclic compounds many of which are drugs, vitamins and environmental ...
Al Salhen, Khaled S
core +3 more sources
Molybdenum Cofactor Deficiency Type B Mimicking Hypoxic-Ischemic Encephalopathy in a Neonate: The First Genetically Confirmed Case in Korea [PDF]
Neonatal MedicineMolybdenum cofactor deficiency (MoCD) is a rare autosomal recessive neurodegenerative disorder that often mimics hypoxic-ischemic encephalopathy (HIE) in neonates, leading to delayed diagnosis. Here, a term female neonate developed refractory seizures on
Soowan Shin +8 more
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Molybdenum cofactor deficiency [PDF]
, 2020 Molybdenum cofactor (MoCo) deficiency presents classically in the neonatal period, with convulsions intractable to anticonvulsant therapy and coma. The clinical manifestations of MoCo deficiency relating to the nervous system are generally considered to be functions of the deficiency of sulfite oxidase.
openaire +2 more sources
Molybdenum Cofactor Deficiency
The Journal of Pediatrics, 1993 We describe a new case of molybdenum cofactor deficiency, an underrecognized inborn error of metabolism that results in neonatal seizures and neurologic abnormalities. Characteristic biochemical defects in affected individuals include hypouricemia, elevated urine sulfate (detectable by dipstick), and elevated S-sulfocysteine (detectable by anion ...
Misko A +4 more
europepmc +3 more sources