翻訳と辞書 Words near each other ・ Pyridoxal kinase ・ Pyridoxal oxidase ・ Pyridoxal phosphatase ・ Pyridoxal phosphate ・ Pyridoxamine ・ Pyridoxamine-phosphate transaminase ・ Pyridoxamine—oxaloacetate transaminase ・ Pyridoxamine—pyruvate transaminase ・ Pyridoxine ・ Pyridoxine 4-dehydrogenase ・ Pyridoxine 4-oxidase ・ Pyridoxine 5'-O-beta-D-glucosyltransferase ・ Pyridoxine 5'-phosphate oxidase ・ Pyridoxine 5'-phosphate synthase ・ Pyridoxine 5-dehydrogenase ・ Pyridoxine-dependent epilepsy ・ Pyridoxine/doxylamine ・ Pyridylnicotinamide ・ Pyridyne ・ Pyrilampes ・ Pyrilia ・ Pyrimethamine ・ Pyrimethanil ・ Pyrimidine ・ Pyrimidine analogue ・ Pyrimidine dimer ・ Pyrimidine metabolism ・ Pyrimidine oxygenase ・ Pyrimidine phosphorylase ・ Pyrimidine-5'-nucleotide nucleosidase 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 Pyridoxine-dependent epilepsy ： ウィキペディア英語版 Pyridoxine-dependent epilepsy Pyridoxine-dependent epilepsy (PDE), also referred to as pyridoxine-dependent seizure (PDS) or vitamin B6 responsive epilepsy, is an extremely rare genetic disorder characterized by intractable seizures in the prenatal and neonatal period. The disorder was first recognized in the 1950s, with the first description provided by Hunt et al. in 1954. More recently, pathogenic variants within the ALDH7A1 gene have been identified to cause PDE.〔〔〔 ==Genetics== PDE is inherited in an autosomal recessive manner and is estimated to affect around 1 in 400,000 to 700,000 births, though one study conducted in Germany estimated a prevalence of 1 in 20,000 births.〔〔 The ALDH7A1 gene encodes for the enzyme antiquitin or α -aminoadipic semialdehyde dehydrogenase, which is involved with the catabolism of lysine.〔〔〔 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「Pyridoxine-dependent epilepsy」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.