peroxisomal disorder

出典: meddic


hyperpipecolic acidemiamultiple peroxisomal dysfunctionneonatal adrenoleukodystrophy

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2013/05/08 17:05:14」(JST)

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  • Transplantation in inborn errors of metabolism: current considerations and future perspectives.
  • Boelens JJ1, Orchard PJ, Wynn RF.
  • British journal of haematology.Br J Haematol.2014 Nov;167(3):293-303. doi: 10.1111/bjh.13059. Epub 2014 Jul 30.
  • Inborn errors of metabolism (IEM) comprise an assorted group of inherited diseases, some of which are due to disordered lysosomal or peroxisomal function and some of which might be improved following haemopoietic cell transplantation (HCT). In these disorders, the onset in infancy or early childhood
  • PMID 25074667
  • Identification of the Mitochondrial MSRB2 as a Binding Partner of LG72.
  • Otte DM1, Raskó T, Wang M, Dreiseidler M, Drews E, Schrage H, Wojtalla A, Höhfeld J, Wanker E, Zimmer A.
  • Cellular and molecular neurobiology.Cell Mol Neurobiol.2014 Nov;34(8):1123-30. doi: 10.1007/s10571-014-0087-0. Epub 2014 Jul 31.
  • Genetic studies have linked the evolutionary novel, anthropoid primate-specific gene locus G72/G30 in the etiology of schizophrenia and other psychiatric disorders. However, the function of the protein encoded by this locus, LG72, is currently controversially discussed. Some studies have suggested t
  • PMID 25078755
  • Peripheral nervous system defects in a mouse model for peroxisomal biogenesis disorders.
  • Hanson MG1, Fregoso VL2, Vrana JD3, Tucker CL3, Niswander LA4.
  • Developmental biology.Dev Biol.2014 Nov 1;395(1):84-95. doi: 10.1016/j.ydbio.2014.08.026. Epub 2014 Aug 28.
  • Peroxisome biogenesis disorders (PBD) are autosomal recessive disorders in humans characterized by skeletal, eye and brain abnormalities. Despite the fact that neurological deficits, including peripheral nervous system (PNS) defects, can be observed at birth in some PBD patients including those with
  • PMID 25176044


  • 極長鎖脂肪酸の反復検査で診断し得たD-bifunctional protein欠損症の1例
  • 塩田 睦記,舟塚 真,小田 絵里 [他],白戸 由理,竹下 暁子,石垣 景子,齋藤 加代子,下澤 伸行,大澤 真木子,SHIODA Mutsuki,FUNATSUKA Makoto,ODA Eri,SHIRATO Yuri,TAKESHITA Akiko,ISHIGAKI Keiko,SAITO Kayoko,SHIMOZAWA Nobuyuki,OSAWA Makiko
  • 東京女子医科大学雑誌 83(E1), E103-E106, 2013-01-31
  • D-bifunctional protein欠損症(以下DBP欠損症)は、ペルオキシゾーム病の1型でβ酸化系酵素単独欠損症である。我々は、病初期に非典型的な臨床像を呈し、徐々に特徴的な経過となったDBP欠損症の1例を経験したので報告する。,症例は家族歴のない2歳2か月の女児で新生児期発症の難治性てんかんと重度精神運動発達遅滞、特異顔貌、肝脾腫があった。生後4か月時には筋緊張は亢進し、極長鎖脂肪酸は …
  • NAID 110009559397
  • Drosophila Carrying Pex3 or Pex16 Mutations Are Models of Zellweger Syndrome That Reflect Its Symptoms Associated with the Absence of Peroxisomes
  • Nakayama Minoru,Sato Hiroyasu,Okuda Takayuki,Fujisawa Nao,Kono Nozomu,Arai Hiroyuki,Suzuki Emiko,Umeda Masato,Ishikawa Hiroyuki O.,Matsuno Kenji
  • PLOS ONE 6(8), 2011-08
  • … The human peroxin genes PEX3 or PEX16 are required for peroxisomal membrane protein targeting, and their mutations cause Zellweger syndrome, a class of PBDs. … The phenotypes of our Zellweger syndrome model flies, such as larval lethality in pex3, and reduced size, shortened longevity, locomotion defects, and abnormal lipid metabolisms in pex16, were reminiscent of symptoms of this disorder, although the Drosophila pex16 mutant does not recapitulate the infant death of Zellweger syndrome. …
  • NAID 120004996597
  • A Novel Fluorescent Sensor Protein for Visualization of Redox States in the Cytoplasm and in Peroxisomes.
  • Yano Taisuke,Oku Masahide,Akeyama Natsuko,Itoyama Akinori,Yurimoto Hiroya,Kuge Shusuke,Fujiki Yukio,Sakai Yasuyoshi
  • Molecular and cellular biology 30(15), 3758-3766, 2010-08
  • oxygen species are generated within peroxisomes during peroxisomal metabolism. … Interestingly, we observed that the redox state of the cytosol of cell mutants for peroxisome-assembly, regarded as models for a neurological metabolic disorder, was more reductive than that of the wild-type cells in yeast and CHO cells. …
  • NAID 120002182833


Peroxisomal Disorders Definition Peroxisomal disorders are a group of congenital (existing from birth) diseases characterized by the absence of normal peroxisomes in the cells of the body. Peroxisomes are special parts (organelles ...
Zellweger described the first case of a peroxisomal disorder. Over the next 3 years, a number of case reports followed. The initial description of the peroxisome (originally termed the microbody) appeared in 1954 in a doctoral thesis ...



先読みneonatal adrenoleukodystrophy
リンク元ペルオキシソーム病」「multiple peroxisomal dysfunction」「hyperpipecolic acidemia

neonatal adrenoleukodystrophy」





peroxisomal disorder, peroxisomal disease

multiple peroxisomal dysfunction」



hyperpipecolic acidemianeonatal adrenoleukodystrophyperoxisomal disorder

hyperpipecolic acidemia」



multiple peroxisomal dysfunctionneonatal adrenoleukodystrophyperoxisomal disorder



  • 障害:個人的苦痛や機能の障害があるので「疾病」とは言えるものの、その背景にある臓器障害がもう一つはっきりしない場合に用いられる。(PSY.9)
  • n.
  • an untidy state; a lack of order or organization (⇔order)
  • violent behaviour of large groups of people
  • an illness that cause a part of the body to stop functioning correctly
  • 注意
disease <> illness <> disorder
  • vt.
  • 乱す、乱雑にする。(人)の(心身の)調子を狂わせる。
  • vi.

WordNet   license wordnet

「bring disorder to」

WordNet   license wordnet

「a physical condition in which there is a disturbance of normal functioning; "the doctor prescribed some medicine for the disorder"; "everyone gets stomach upsets from time to time"」

WordNet   license wordnet

「a disturbance of the peace or of public order」

PrepTutorEJDIC   license prepejdic

「〈U〉『無秩序』,混乱,乱雑(confusion) / 《しばしば複数形で》(社会的・政治的な)粉争,騒動 / 〈C〉(肉体的・精神的な)不調,異常,障害 / …‘の'秩序を乱す / 〈心身〉‘に'異常を起こさせる」



WordNet   license wordnet

「not arranged in order」



  • ペルオキシソームの