翻訳と辞書 Words near each other ・ Malong County ・ Malongkeng ・ Malongocephalus ・ Malonic acid ・ Malonic anhydride ・ Malonic ester synthesis ・ Malonno ・ Malononitrile ・ Malonowo ・ Malons-et-Elze ・ Malonty ・ Malony v. Adsit ・ Malonyl CoA reductase (malonate semialdehyde-forming) ・ Malonyl-CoA ・ Malonyl-CoA decarboxylase ・ Malonyl-CoA decarboxylase deficiency ・ Malonyl-CoA O-methyltransferase ・ Malonyl-S-ACP decarboxylase ・ Malonyltransferase ・ Maloo ・ Maloof ・ Maloof family ・ Maloof Money Cup ・ Maloof Productions ・ Maloof Skate Park ・ Malooga ・ Malook Abad, Swat ・ Malootty ・ Malope ・ Malope trifida 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 Malonyl-CoA decarboxylase deficiency ： ウィキペディア英語版 Malonyl-CoA decarboxylase deficiency Malonyl-CoA decarboxylase deficiency (MCD), or Malonic aciduria is an autosomal-recessive metabolic disorder caused by a genetic mutation that disrupts the activity of Malonyl-Coa decarboxylase. This enzyme breaks down Malonyl-CoA (a fatty acid precursor and a fatty acid oxidation blocker) into Acetyl-CoA and carbon dioxide. ==Signs and symptoms== The signs and symptoms of this disorder typically appear in early childhood. Almost all affected children have delayed development. Additional signs and symptoms can include weak muscle tone (hypotonia), seizures, diarrhea, vomiting, and low blood sugar (hypoglycemia). A heart condition called cardiomyopathy, which weakens and enlarges the heart muscle, is another common feature of malonyl-CoA decarboxylase deficiency. Some common symptoms in Malonyl-CoA decarboxylase deficiency, such as cardiomyopathy and metabolic acidosis, are triggered by the high concentrations of Malonyl-CoA floating around in the cytoplasm. High level of Malonyl-CoA will inhibits β-oxidation of fatty acids through deactivating the carrier of fatty acyl group, CPT1, and thus, blocking fatty acids from going into the mitochondrial matrix for oxidation. A research conducted in Netherlands has suggested that carnitine supplements and a low fat diet may help to reduce the level of malonic acid in our body. 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「Malonyl-CoA decarboxylase 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.