翻訳と辞書 Words near each other ・ Methylliberine ・ Methyllinderone ・ Methyllithium ・ Methyllycaconitine ・ Methyllysine ・ Methylmagnesium chloride ・ Methylmalonate semialdehyde dehydrogenase ・ Methylmalonate-semialdehyde dehydrogenase (acylating) ・ Methylmalonic acid ・ Methylmalonic acidemia ・ Methylmalonyl CoA epimerase ・ Methylmalonyl-CoA ・ Methylmalonyl-CoA carboxytransferase ・ Methylmalonyl-CoA decarboxylase ・ Methylmalonyl-CoA mutase ・ Methylmalonyl-CoA mutase deficiency ・ Methylmercuric dicyanamide ・ Methylmercury ・ Methylmescaline ・ Methylmethaqualone ・ Methylmethcathinone ・ Methylnaltrexone ・ Methylnaphthalene ・ Methylnitronitrosoguanidine ・ Methylobacillus ・ Methylobacillus flagellatus ・ Methylobacillus glycogenes ・ Methylobacillus pratensis ・ Methylobacter tundripaludum ・ Methylobacteriaceae Dictionary Lists mini英和辞書 mini和英辞書 Webster 1913 Latin-English FOLDOC Wikipedia English ウィキペディア

翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Methylmalonyl-CoA mutase deficiency ： ウィキペディア英語版 Methylmalonyl-CoA mutase deficiency Methylmalonyl-CoA mutase is a mitochondrial homodimer apoenzyme (EC. 5. 4.99.2) that focuses on the catalysis of malonyl CoA to succinyl CoA. The enzyme is bound to adenosylcobalamin, a hormonal derivative of vitamin B12 in order to function. Methylmalonyl-CoA mutase deficiency is caused by genetic defect in the MUT gene responsible for encoding the enzyme. Deficiency in this enzyme accounts for 60% of the cases of methylmalonic acidemia. ==Symptoms== People with methylmalonyl CoA mutase deficiency exhibit many symptoms similar to other diseases involving inborn errors of metabolism. Sometimes the symptoms appear shortly after birth, but other times the onset of symptoms is later. Newborn babies experience with vomiting, acidosis, hyperammonemia, hepatomegaly (enlarged livers), hyperglycinemia (high glycine levels), and hypoglycemia (low blood sugar). Later, cases of thrombocytopenia and neutropenia can occur. In some cases intellectual and developmental disabilities, such as autism, were noted with increased frequency in populations with methylmalonyl-CoA mutase deficiency. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Methylmalonyl-CoA mutase deficiency」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.