Gene Location for Molybdenum Cofactor Deficiency
نویسندگان
چکیده
منابع مشابه
Child Neurology: Molybdenum cofactor deficiency.
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. A characteristic biochemical profile permits early diagnosis. Although more than 100 genetically characterized patients have been reported, this number is discrepant with the actual pre...
متن کاملMolybdenum Cofactor and Sulfite Oxidase Deficiency
A universal molybdenum-containing cofactor is necessary for the activity of all eukaryotic molybdoenzymes. In humans four such enzymes are known: Sulfite oxidase, xanthine oxidoreductase, aldehyde oxidase and a mitochondrial amidoxime reducing component. Of these, sulfite oxidase is the most important and clinically relevant one. Mutations in the genes MOCS1, MOCS2 or GPHN all encoding cofactor...
متن کاملMolybdenum Cofactor Biology and Disorders Related to Its Deficiency; A Review Study
Background: Molybden, as a vital and essential micronutrient is directly involved in the metabolism of other elements including carbon, sulfur, and nitrogen. Molybdenum alone is not biologically active unless it binds to specific cofactors. Except for the bacterial nitrogenase, which contains molybdenum-Iron complex, molybdenum cofactor (Moco) is considered as the bioactive component placed in ...
متن کاملClinical neuroimaging features and outcome in molybdenum cofactor deficiency.
Molybdenum cofactor deficiency predominantly affects the central nervous system. There are limited data on long-term outcome or brain magnetic resonance imaging (MRI) features. We examined the clinical, brain MRI, biochemical, genetic, and electroencephalographic features and outcome in 8 children with a diagnosis of molybdenum cofactor deficiency observed in our institution over 10 years. Two ...
متن کاملChoice of anesthesia in molybdenum cofactor deficiency: A case report
Molybdenum cofactor (MC) deficiency is defined as a progressive neurodegenerative and neurometabolic disease, characterized by convulsions, severe mental and motor retardation resistant to the treatment. Patients with MC deficiency usually need at least sedation for even minor interventions such as dental examination or treatment. Sedation or general anesthesia for these patients may be complic...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1998
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-12-8-3