Information om | Engelska ordet METHYLMALONIC

Exempel på hur man kan använda METHYLMALONIC i en mening

• Methylmalonic acidemias, also called methylmalonic acidurias, are a group of inherited metabolic disorders, that prevent the body from properly breaking down proteins and fats.
• Nyhan's areas of research span a variety of amino acid metabolism disorders, among them 4-hydroxybutyric aciduria, 3-methylglutaconyl-Co A hydratase deficiency, multiple carboxylase deficiency, methylmalonic acidemia, and propionic acidemia.
• If elevated methylmalonic acid levels are accompanied by elevated malonic acid levels, this may indicate the metabolic disease combined malonic and methylmalonic aciduria (CMAMMA).
• However, one study on the treatment of children with methylmalonic acidemia and homocystinuria found oral hydroxocobalamine at 1 mg daily to be ineffective in reducing levels of homocysteine.
• In the metabolic disease combined malonic and methylmalonic aciduria (CMAMMA), acyl-CoA synthetase family member 3 (ACSF3) is reduced, which converts toxic methylmalonic acid to methylmalonyl-CoA and thus supplies it to the citric acid cycle.
• It is elevated with folate trapping, where it is accompanied by decreased methylmalonic acid, increased folate and a decrease in homocysteine.
• The four main types of organic acidemia are: methylmalonic acidemia, propionic acidemia, isovaleric acidemia, and maple syrup urine disease.
• Mutations in this gene have been shown to cause combined malonic and methylmalonic aciduria (CMAMMA).
• Her research been instrumental in elucidating the structural enzymology of the complex B12 trafficking pathway chaperones found in humans, illuminating how redox-linked coordination chemistry controls the reactivity and translocation of this large organometallic cofactor between proteins, and how mutations described in homocystinuria and methylmalonic aciduria patients, dysregulate this pathway.
• He discovered new inherited disorders of organic acid metabolism (propionic and methylmalonic acidemia), and defined key aspects of ornithine transcarbamylase deficiency leading to ammonia intoxication, including its mode of inheritance and mechanism of the enzyme's transport to mitochondria.
• Combined malonic and methylmalonic aciduria (CMAMMA), also called combined malonic and methylmalonic acidemia is an inherited metabolic disease characterized by elevated levels of malonic acid and methylmalonic acid.

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