Novel gene mutation of molybdenum cofactor deficiency
نویسندگان
چکیده
منابع مشابه
A GPHN point mutation leading to molybdenum cofactor deficiency.
To the Editor : Molybdenum cofactor deficiency (MoCoD, MIM 252150) is an autosomal recessive and rare metabolic disease (1). Absence of the cofactor inactivates sulphite oxidase activity thereby resulting via elevated sulphite levels in severe and progressive neurological damage. Affected patients are found worldwide and usually come to clinical attention by intractable seizures with a prominen...
متن کاملChild 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 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: Journal of the Neurological Sciences
سال: 2019
ISSN: 0022-510X
DOI: 10.1016/j.jns.2019.10.1492