metachromatic leukodystrophy

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異染性白質ジストロフィー

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2017/06/14 21:19:22」(JST)

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英文文献

  • Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy.
  • Virgens MY1, Siebert M2, Bock H3, Burin M4, Giugliani R5, Saraiva-Pereira ML6.
  • Gene.Gene.2015 May 9. pii: S0378-1119(15)00574-0. doi: 10.1016/j.gene.2015.05.016. [Epub ahead of print]
  • Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder inherited as an autosomal recessive trait. MLD is caused by the deficiency of arylsulfatase A (ARSA), a lysosomal enzyme that catalyzes the first step in the degradation of sulfated glycolipids, which are essential components of the
  • PMID 25965562
  • Sulfatide levels correlate with severity of neuropathy in metachromatic leukodystrophy.
  • Dali CÍ1, Barton NW2, Farah MH3, Moldovan M4, Månsson JE5, Nair N2, Dunø M1, Risom L1, Cao H2, Pan L2, Sellos-Moura M2, Corse AM3, Krarup C4.
  • Annals of clinical and translational neurology.Ann Clin Transl Neurol.2015 May;2(5):518-33. doi: 10.1002/acn3.193. Epub 2015 Mar 27.
  • OBJECTIVE: Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder due to deficient activity of arylsulfatase A (ASA) that causes accumulation of sulfatide and lysosulfatide. The disorder is associated with demyelination and axonal loss in the central and peripheral n
  • PMID 26000324
  • Abnormalities of acid-base balance and predisposition to metabolic acidosis in Metachromatic Leukodystrophy patients.
  • Lorioli L1, Cicalese MP2, Silvani P3, Assanelli A4, Salvo I5, Mandelli A5, Fumagalli F6, Fiori R3, Ciceri F7, Aiuti A1, Sessa M6, Roncarolo MG1, Lanzani C8, Biffi A9.
  • Molecular genetics and metabolism.Mol Genet Metab.2015 May;115(1):48-52. doi: 10.1016/j.ymgme.2015.02.009. Epub 2015 Mar 6.
  • Metachromatic Leukodystrophy (MLD; MIM# 250100) is a rare inherited lysosomal storage disorder caused by the deficiency of Arylsulfatase A (ARSA). The enzymatic defect results in the accumulation of the ARSA substrate that is particularly relevant in myelin forming cells and leads to progressive dys
  • PMID 25796965

和文文献

  • Molecular bases of metachromatic leukodystrophy in Polish patients
  • Lugowska Agnieszka,Ploski Rafal,Wlodarski Pawel [他]
  • Journal of human genetics 55(6), 394-396, 2010-06
  • NAID 40017160870
  • ライソゾーム病 Krabbe病,異染性白質ジストロフィー (小児の治療指針) -- (代謝)

関連リンク

metachromatic leukodystrophy" at Dorland's Medical Dictionary ^ a b Le, Tao; Bhushan, Vikas; Hofmann, Jeffrey (2012). First Aid for the USMLE Step 1. McGraw-Hill. p. 117. |accessdate= requires |url= (help) ^ Poeppel P, Habetha ...
What is Metachromatic Leukodystrophy? Metachromatic leukodystrophy (MLD) is one of a group of genetic disorders called the leukodystrophies. These diseases impair the growth or development ...

関連画像

Metachromatic leukodystrophy | Image Metachromatic leukodystrophy | Image Metachromatic leukodystrophy | Image Metachromatic leukodystrophy - probable Leukodystrophy, Metachromatic Metachromatic Leukodystrophy | Genesis


★リンクテーブル★
リンク元異染性白質ジストロフィー」「MCD
拡張検索adult metachromatic leukodystrophy」「late infantile metachromatic leukodystrophy
関連記事leukodystrophy

異染性白質ジストロフィー」

  [★]

metachromatic leukodystrophy MLD
leukodystrophia metachromatica
異染性脳白質ジストロフィーグリーンフィールド病 Greenfield disease、スルファチド脂質症 sulfatide lipidosis、成人型異染性白質ジストロフィー

概念

遺伝形式

病型

  • 先天性、乳児型(最も多い)、若年型、成人型。 (SPE.181)

徴候

  • (乳児型)1歳以降に歩行の不安定で気づかれ、腱反射減弱、筋緊張低下を認める。数ヶ月の経過で座位困難となり、知的退行、視力障害が認められる。(SPE.181)

検査

  • 末梢神経伝導速度:伝導速度低下
  • 髄液:蛋白質増加
  • 尿:スルファチド増加
  • 眼底:視神経萎縮
  • MRI:

治療法

  • なし

予後

  • 不良

参考

  • 1. OMIM
[display]http://www.ncbi.nlm.nih.gov/omim/250100
  • 2. MRI
[display]http://www.uiowa.edu/~c064s01/nr287.htm
[display]http://radiographics.rsna.org/content/22/3/461/F1.medium.gif
[display]http://radiographics.rsna.org/content/22/3/461/F2.medium.gif



MCD」

  [★]


adult metachromatic leukodystrophy」

  [★]

成人型異染性白質ジストロフィー

metachromatic leukodystrophy


late infantile metachromatic leukodystrophy」

  [★]

遅発乳児型異染性白質ジストロフィー


leukodystrophy」

  [★] 白質ジストロフィー




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