翻訳と辞書 Words near each other ・ MUCL ・ MUCL1 ・ Muco River ・ Muco-Inositol ・ Mucoa ・ Mucoadhesion ・ Mucobromic acid ・ Mucocele ・ Mucociliary clearance ・ Mucocutaneous zone ・ Mucoepidermoid carcinoma ・ Mucogingival junction ・ Mucoid plaque ・ Mucokinetics ・ Mucolipidosis ・ Mucolipidosis type IV ・ Mucomassariaceae ・ MuCommander ・ Muconate lactonizing enzyme ・ Muconda ・ Muconic acid ・ Muconolactone Delta-isomerase ・ Mucoperiosteum ・ Mucophagy ・ Mucophilus ・ Mucopolysaccharide–cartilage complex ・ Mucopolysaccharidosis ・ Mucoprotective ・ Mucoprotein ・ Mucopurulent discharge 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 Mucolipidosis type IV ： ウィキペディア英語版 Mucolipidosis type IV ← Mucolipidosis type IV (ML IV or ML4) is an autosomal recessive lysosomal storage disorder. Individuals with the disorder have many symptoms including delayed psychomotor development and various ocular aberrations. The disorder is caused by mutations in the MCOLN1 gene, which encodes a non-selective cation channel, mucolipin1. These mutations disrupt cellular functions and lead to a neurodevelopmental disorder through an unknown mechanism. Researchers dispute the physiological role of the protein product and which ion it transports. ==Symptoms and Signs== Most patients with ML IV show psychomotor retardation (i.e., delayed development of movement and coordination), corneal opacity, retinal degeneration and other ophthalmological abnormalities. Other symptoms include agenesis of the corpus callosum, iron deficiency resulting from an absence of acid secretion in the stomach, achlorhydria. Achlorhydria in these patients results in an increase in blood gastrin levels. These symptoms typically manifest early in life (within the first year). After disease onset there occurs a period of stability, typically lasting two to three decades during which very little disease progression occurs. 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「Mucolipidosis type IV」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.