翻訳と辞書 Words near each other ・ 2-Methyl-2-heptanethiol ・ 2-Methyl-2-nitrosopropane ・ 2-Methyl-2-pentanol ・ 2-Methyl-3-oxopropanoic acid ・ 2-Methyl-3-pentanol ・ 2-Methyl-3-phenylpiperidine ・ 2-Methyl-5-hydroxytryptamine ・ 2-Methyl-6-(phenylethynyl)pyridine ・ 2-Methyl-6-nitrobenzoic anhydride ・ 2-methyl-branched-chain-enoyl-CoA reductase ・ 2-Methyl-MDA ・ 2-Methylacetoacetyl-CoA ・ 2-methylacetoacetyl-CoA thiolase ・ 2-methylacyl-CoA dehydrogenase ・ 2-Methylbutyryl-CoA ・ 2-Methylbutyryl-CoA dehydrogenase deficiency ・ 2-methylcitrate dehydratase ・ 2-methylcitrate dehydratase (2-methyl-trans-aconitate forming) ・ 2-methylcitrate synthase ・ 2-methyleneglutarate mutase ・ 2-Methylfuran ・ 2-Methylheptane ・ 2-Methylhexane ・ 2-Methylimidazole ・ 2-Methylindole ・ 2-Methylisoborneol ・ 2-methylisoborneol synthase ・ 2-methylisocitrate dehydratase ・ 2-Methylnaphthalene ・ 2-Methylpentane 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 2-Methylbutyryl-CoA dehydrogenase deficiency ： ウィキペディア英語版 2-Methylbutyryl-CoA dehydrogenase deficiency 2-Methylbutyryl-CoA dehydrogenase deficiency, also called 2-Methylbutyryl glycinuria or short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD), is an autosomal recessive metabolic disorder. It causes the body to be unable to process the amino acid isoleucine properly. Initial case reports identified individuals with developmental delay and epilepsy, however most cases identified through newborn screening have been asymptomatic. ==Signs and symptoms== SBCADD is included as a secondary target condition in most newborn screening programs, as the key analyte is the same as is used to identify isovaleric acidemia. Most cases have been Hmong individuals, who are asymptomatic. There are isolated case reports where individuals have been identified with SBCADD in addition to developmental delay and epilepsy. It is currently unclear what the complete clinical presentation of SBCADD looks like. There is some concern that these cases with additional symptoms may reflect an ascertainment bias rather than being a true representation of the clinical spectrum of the disease.〔 Currently, there is no accepted treatment, as most affected individuals do not require any. Some recommend avoidance of valproic acid, as it can be a substrate for 2-methylbutyryl-CoA dehydrogenase.〔 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「2-Methylbutyryl-CoA dehydrogenase 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.