globoid cell leukodystrophy

グロボイド細胞白質ジストロフィー、クラッベ病

関

infantile globoid cell leukodystrophy、Krabbe disease、Krabbe's disease

WordNet

1. small room in which a monk or nun lives (同)cubicle
2. a device that delivers an electric current as the result of a chemical reaction (同)electric cell
3. a room where a prisoner is kept (同)jail cell, prison cell
4. (biology) the basic structural and functional unit of all organisms; they may exist as independent units of life (as in monads) or may form colonies or tissues as in higher plants and animals
5. any small compartment; "the cells of a honeycomb"
6. a small unit serving as part of or as the nucleus of a larger political movement (同)cadre

PrepTutorEJDIC

1. (刑務所の)『独房』;(修道院の)小さい独居室 / (ミツバチの)みつ房,巣穴 / 小さい部屋 / 『細胞』 / 電池 / 花粉室 / (共産党などの)細胞

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/11/27 20:04:29」(JST)

wiki en

[Wiki en表示]

Krabbe disease
Classification and external resources
ICD-10	E75.2
ICD-9	330.0
OMIM	245200
DiseasesDB	29468
MedlinePlus	001198
eMedicine	ped/2892
MeSH	D007965

Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare, often fatal degenerative disorder that affects the myelin sheath of the nervous system. It is a form of sphingolipidosis, as it involves dysfunctional metabolism of sphingolipids. This condition is inherited in an autosomal recessive pattern. The disease is named after the Danish neurologist Knud Haraldsen Krabbe (1885-1965).

Incidence

Krabbe disease occurs in about 1 in 100,000 births. A higher incidence, about 6 in 1,000, has been reported in some Arab communities in Israel. Scandinavian countries have comparatively high rates of the disease, reported to be 1 in 50,000 births. Krabbe disease may also be found in cats and in dogs, particularly Westies and Cairn Terriers.

Causes

Krabbe disease is caused by mutations in the GALC gene located on chromosome 14 (14q31), which causes a deficiency of an enzyme called galactocerebrosidase. In rare cases it may be caused by a lack of active saposin A.

The build-up of unmetabolized lipids affects the growth of the nerve's protective myelin sheath (the covering that insulates many nerves) and causes severe degeneration of motor skills. As part of a group of disorders known as leukodystrophies, Krabbe disease results from the imperfect growth and development of myelin.

GALC deficiency also results in a build-up of a glycosphingolipid called Psychosine. It has been suggested Psychosine causes axonal degeneration in both the CNS and PNS by disrupting lipid rafts and may play a role in Krabbe disease.

Symptoms

Infants with Krabbe disease are normal at birth. Symptoms begin between the ages of 3 and 6 months with irritability, fevers, limb stiffness, seizures, feeding difficulties, vomiting, and slowing of mental and motor development. In the first stages of the disease, doctors often mistake the symptoms for those of cerebral palsy. Other symptoms include muscle weakness, spasticity, deafness, optic atrophy, optic nerve enlargement, blindness, paralysis, and difficulty when swallowing. Prolonged weight loss may also occur. There are also juvenile- and adult-onset cases of Krabbe disease, which have similar symptoms but slower progression.

Diagnosis

The disease may be diagnosed by its characteristic grouping of certain cells (multinucleated globoid cells), nerve demyelination and degeneration, and destruction of brain cells. Special stains for myelin (e.g.; luxol fast blue) may be used to aid diagnosis.

Prognosis

In infants, the disease is generally fatal before age 2. Patients with late-onset Krabbe disease tend to have a slower progression of the disease and live significantly longer.

Treatment

Although there is no cure for Krabbe disease, bone marrow transplantation has been shown to benefit cases early in the course of the disease. Generally, treatment for the disorder is symptomatic and supportive. Physical therapy may help maintain or increase muscle tone and circulation. A recent study in the New England Journal of Medicine reports that cord blood transplants have been successful in stopping the disease as long as they are given before overt symptoms appear.

Advocacy

Former Buffalo Bills quarterback Jim Kelly has been a leader in gaining recognition and research funding for Krabbe disease, following the diagnosis of his son, Hunter, in 1997. Hunter Kelly died of the disease on August 5, 2005, at the age of 8.

See also

• The Myelin Project
• The Stennis Foundation

References

This article incorporates public domain text from the United States National Library of Medicine and the National Institute of Neurological Disorders and Stroke.

External links

• Dr. Maria Escolar Speaks about Krabbe Disease - Infantile Krabbe Disease Parent Education Program
• GeneReviews/NCBI/NIH/UW entry on Krabbe disease
• OMIM entries on Krabbe disease
• The Stennis Foundation
• 00174 at CHORUS
• The Hunter's Hope Foundation
• DTI as a Tool to Identify Infants with Krabbe Disease in Need of Urgent Treatment - Study to aid detection and treatment of Krabbe Disease

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

• 1. クラッベ病 krabbe disease
• 2. 全身疾患と関連した遺伝性ニューロパチー hereditary neuropathies associated with generalized disorders
• 3. 消失性白質疾患（Vanishing white matter disease） vanishing white matter disease
• 4. アスパルトアシラーゼ欠乏症（カナバン病） aspartoacylase deficiency canavan disease
• 5. ペリツェウス・メルツバッハー病 pelizaeus merzbacher disease

English Journal

• Neural stem cell gene therapy ameliorates pathology and function in a mouse model of globoid cell leukodystrophy.

• Neri M, Ricca A, di Girolamo I, Alcala'-Franco B, Cavazzin C, Orlacchio A, Martino S, Naldini L, Gritti A.SourceDivision of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Telethon Institute for Gene Therapy (HSR-TIGET), Milano, Italy.
• Stem cells (Dayton, Ohio).Stem Cells.2011 Oct;29(10):1559-71. doi: 10.1002/stem.701.
• Murine neural stem cells (mNSCs), either naive or genetically modified to express supranormal levels of β-galactocerebrosidase (GALC), were transplanted into the brain of Twitcher mice, a murine model of globoid cell leukodystrophy, a severe sphingolipidosis. Cells engrafted long-term into the host
• PMID 21809420

• Simplified newborn screening protocol for lysosomal storage disorders.

• Metz TF, Mechtler TP, Orsini JJ, Martin M, Shushan B, Herman JL, Ratschmann R, Item CB, Streubel B, Herkner KR, Kasper DC.SourceDepartment of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
• Clinical chemistry.Clin Chem.2011 Sep;57(9):1286-94. Epub 2011 Jul 19.
• BACKGROUND: Interest in lysosomal storage disorders, a collection of more than 40 inherited metabolic disorders, has increased because of new therapy options such as enzyme replacement, stem cell transplantation, and substrate reduction therapy. We developed a high-throughput protocol that simplifie
• PMID 21771947

Japanese Journal

• 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)

• 酒井 規夫
• 小児科診療 73(-) (866), 510-512, 2010
• NAID 40017118212

• Pathogenesis of leukodystrophy for Krabbe disease : Molecular mechanism and clinical treatment

• SAKAI Norio
• Brain & development 31(7), 485-487, 2009-08-01
• NAID 10025580442

• Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation

• Xu Chengzhe,Sakai Norio,Taniike Masako [他],INUI Koji,OZONO Keiichi
• Journal of human genetics 51(6), 548-554, 2006-06-01
• NAID 10017608409

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★リンクテーブル★

リンク元	「グロボイド細胞白質ジストロフィー」「グロボイド細胞型白質ジストロフィー」
拡張検索	「infantile globoid cell leukodystrophy」
関連記事	「cell」「leukodystrophy」

「グロボイド細胞白質ジストロフィー」

　　[★]

英

globoid cell leukodystrophy

関

クラッベ病、小児グロボイド細胞白質ジストロフィー

「グロボイド細胞型白質ジストロフィー」

　　[★]

英

globoid cell leukodystrophy

同

クラッベ病 Krabbe's disease

「infantile globoid cell leukodystrophy」

　　[★]

小児グロボイド細胞白質ジストロフィー

関

globoid cell leukodystrophy、Krabbe disease、Krabbe's disease

「cell」

　　[★] 細胞 　 　 　 　 　 　 　

「leukodystrophy」

　　[★] 白質ジストロフィー