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翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Pseudo-Hurler polydystrophy ： ウィキペディア英語版 Pseudo-Hurler polydystrophy Pseudo-Hurler polydystrophy, also referred to as mucolipidosis III (ML III), is a lysosomal storage disease closely related to I-cell disease (ML II). This disorder is called Pseudo-Hurler because it resembles a mild form of Hurler syndrome, one of the mucopolysaccharide (MPS) diseases. ==Pathophysiology== As in Mucolipidosis II, Mucolipidosis III results from genetic defects in GlcNAc phosphotransferase (N-acetylglucosamine-1-phosphotransferase). However, ML III produces less severe symptoms and progresses more slowly, probably because the defect in GlcNAc phosphotranspherase lies in its protein recognition domain.〔Murray, R, Granner, D, and Rodwell, V. (2006). Harper's Illustrated Biochemistry. 27th ed. New York: Lange Medical Books/McGraw-Hill.〕 Therefore, the catalytic domain retains some of its activity, resulting in a smaller accumulation of carbohydrates, lipids, and proteins in the inclusion bodies. 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「Pseudo-Hurler polydystrophy」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.