Krabbe leukodystrophy

Common Name(s)

Krabbe leukodystrophy, Galactosylceramide beta-galactosidase deficiency, Krabbe Disease

Krabbe leukodystrophy is a degenerative disorder that affects the nervous system. It is caused by the shortage (deficiency) of an enzyme called galactosylceramidase (GALC). This enzyme deficiency results in defective myelin, the covering that insulates many nerves. Krabbe disease is considered part of a group of disorders known as leukodystrophies, which result from the imperfect growth and development of myelin. Krabbe disease usually begins before the age of 1 year (early-onset form). Initial signs and symptoms often include feeding difficulties, episodes of unexplained fever, stiff posture, and developmental delay. As the disease progresses, muscles continue to weaken, affecting the infant's ability to move, chew, swallow, and breathe. Affected infants also experience vision loss and intellectual disability. Less commonly, onset can occur later in childhood, adolescence, or adulthood (late-onset form). Krabbe disease is caused by mutations in the GALC gene and is inherited in an autosomal recessive pattern.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Krabbe leukodystrophy" for support, advocacy or research.

Hunter's Hope Foundation

The Foundation's mission is to increase public awareness of Krabbe Disease and other leukodystrophies, as well as to increase the likelihood of early detection and treatment. The Foundation's goal is to fund research efforts to identify new treatments, therapies and a cure for Krabbe Disease.

Last Updated: 24 Oct 2012

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National Tay-Sachs & Allied Diseases Association, Inc.

The mission of the National-Tay Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.

Last Updated: 13 May 2014

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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The Stennis Foundation

Raising awareness of the Leukodystrophies, and raising funds for Leukodystrophies research.

Last Updated: 30 Apr 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Krabbe leukodystrophy" for support, advocacy or research.

Hunter's Hope Foundation

The Foundation's mission is to increase public awareness of Krabbe Disease and other leukodystrophies, as well as to increase the likelihood of early detection and treatment. The Foundation's goal is to fund research efforts to identify new treatments, therapies and a cure for Krabbe Disease.

http://www.huntershope.org

Last Updated: 24 Oct 2012

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National Tay-Sachs & Allied Diseases Association, Inc.

The mission of the National-Tay Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.

http://www.ntsad.org

Last Updated: 13 May 2014

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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The Stennis Foundation

Raising awareness of the Leukodystrophies, and raising funds for Leukodystrophies research.

http://www.stennisfoundation.org

Last Updated: 30 Apr 2015

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General Resources

Krabbe Newborn Screening

Brochure written for families who have received a positive newborn screen result for Krabbe disease. Brochure is also available in Spanish.

Updated 24 Oct 2012

Open Doc
 
 
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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Krabbe leukodystrophy" returned 2 free, full-text research articles on human participants. First 3 results:

Optic nerve enlargement and leukodystrophy: an unusual finding of the infantile form of Krabbe disease.
 

Author(s): Antonio Milton Lima Garcia, Norma Martins Menezes Morais, Lygia Ohlweiler, Maria Isabel Bragatti Winckler, Josiane Ranzan, Osvaldo Alfonso Pinto Artigalás, Luise Lapagesse de Camargo Pinto, Cristina Brinckmann Oliveira Netto, Patrícia Ashton-Prolla, Leonardo Vedolin, Rudimar dos Santos Riesgo, Newra Tellechea Rotta

Journal: Arq Neuropsiquiatr. 2010 Oct;68(5):816-8.

 

Last Updated: 4 Nov 2010

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Diagnosis of metachromatic leukodystrophy, Krabbe disease, and Farber disease after uptake of fatty acid-labeled cerebroside sulfate into cultured skin fibroblasts.
 

Author(s): T Kudoh, D A Wenger

Journal: J. Clin. Invest.. 1982 Jul;70(1):89-97.

 

[(14)C]Stearic acid-labeled cerebroside sulfate (CS) was presented to cultured skin fibroblasts in the media. After endocytosis into control cells 86% was readily metabolized to galactosylceramide, ceramide, and stearic acid, which was reutilized in the synthesis of the major lipids ...

Last Updated: 14 Aug 1982

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Krabbe leukodystrophy" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Biomarker for Krabbe Disease
 

Status: Recruiting

Condition Summary: Lysosomal Storage Diseases; Krabbe Disease

 

Last Updated: 9 Apr 2015

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MT2013-31:Allo BMT for Metabolic Disorders, Osteopetrosis and Males With Rett Syndrome
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis I; Mucopolysaccharidosis II; Mucopolysaccharidosis VI; Mucopolysaccharidosis VII; Hurler Syndrome; Hunter Syndrome; Maroteaux Lamy Syndrome; Sly Syndrome; Glycoprotein Metabolic Disorders; Alpha Mannosidosis; Fucosidosis; Aspartylglucosaminuria; Adrenoleukodystrophy; Peroxisomal Disorders; Osteopetrosis; Rett Syndrome; Sphingolipidosis; Gangliosidosis; Globoid Cell Leukodystrophy; Metachromatic Leukodystrophy; Niemann Pick B; Niemann Pick C Subtype 2; I-cell Disease

 

Last Updated: 22 Apr 2015

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Human Placental-Derived Stem Cell Transplantation
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis I; Mucopolysaccharidosis VI; Adrenoleukodystrophy; Niemann-Pick Disease; Metachromatic Leukodystrophy; Wolman Disease; Krabbe's Disease; Gaucher's Disease; Fucosidosis; Batten Disease; Severe Aplastic Anemia; Diamond-Blackfan Anemia; Amegakaryocytic Thrombocytopenia; Myelodysplastic Syndrome; Acute Myelogenous Leukemia; Acute Lymphocytic Leukemia

 

Last Updated: 29 Apr 2015

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