Metachromatic leukodystrophy

Common Name(s)

Metachromatic leukodystrophy, Arylsulfatase A Deficiency, ARSA deficiency, Greenfield's disease, MLD

Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin. Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

Evanosky Foundation

Our mission is to fund MLD research and develop programs to enhance the overall quality of life for families affected by MLD or other leukodystrophies.

Last Updated: 14 Jan 2013

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MLD Foundation

We C.A.R.E.™ – The MLD Foundation's global mission is reflected in four areas of purpose that start with people and families ... facilitating Compassion, increasing Awareness, influencing Research, and promoting Education for metachromatic leukodystrophy. We are active in rare disease advocacy, newborn screening, registries, FDA policy, and "educate" regularly on Capitol Hill. The MLD Foundation collaborates with other leukodystrophy and lysosomal disease organizations globally. We are also quite active in global rare disease issues.

Last Updated: 13 Jun 2014

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The Stennis Foundation

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

Last Updated: 14 Jan 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Evanosky Foundation

Our mission is to fund MLD research and develop programs to enhance the overall quality of life for families affected by MLD or other leukodystrophies.

http://www.evanoskyfoundation.org

Last Updated: 14 Jan 2013

View Details
MLD Foundation

We C.A.R.E.™ – The MLD Foundation's global mission is reflected in four areas of purpose that start with people and families ... facilitating Compassion, increasing Awareness, influencing Research, and promoting Education for metachromatic leukodystrophy. We are active in rare disease advocacy, newborn screening, registries, FDA policy, and "educate" regularly on Capitol Hill. The MLD Foundation collaborates with other leukodystrophy and lysosomal disease organizations globally. We are also quite active in global rare disease issues.

http://www.MLDfoundation.org

Last Updated: 13 Jun 2014

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The Stennis Foundation

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

http://www.stennisfoundation.org

Last Updated: 14 Jan 2013

View Details

 

General Support Organizations

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General Resources

MLD 101 - Overview of MLD

A layman's introduction to MLD

Uploaded By: MLD Foundation

Updated 5 Jan 2013

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Current MLD Research & Clinical Trial Updates

An overview of current MLD research

Uploaded By: MLD Foundation

Updated 5 Jan 2013

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Blogs

MLD Foundation Blog

The MLD Foundation blog

Uploaded by: MLD Foundation

Updated 5 Jan 2013

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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 "Metachromatic leukodystrophy" returned 75 free, full-text research articles on human participants. First 3 results:

Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy.
 

Author(s): Alessandra Biffi, Eugenio Montini, Laura Lorioli, Martina Cesani, Francesca Fumagalli, Tiziana Plati, Cristina Baldoli, Sabata Martino, Andrea Calabria, Sabrina Canale, Fabrizio Benedicenti, Giuliana Vallanti, Luca Biasco, Simone Leo, Nabil Kabbara, Gianluigi Zanetti, William B Rizzo, Nalini A L Mehta, Maria Pia Cicalese, Miriam Casiraghi, Jaap J Boelens, Ubaldo Del Carro, David J Dow, Manfred Schmidt, Andrea Assanelli, Victor Neduva, Clelia Di Serio, Elia Stupka, Jason Gardner, Christof von Kalle, Claudio Bordignon, Fabio Ciceri, Attilio Rovelli, Maria Grazia Roncarolo, Alessandro Aiuti, Maria Sessa, Luigi Naldini

Journal: Science. 2013 Aug;341(6148):1233158.

 

Metachromatic leukodystrophy (MLD) is an inherited lysosomal storage disease caused by arylsulfatase A (ARSA) deficiency. Patients with MLD exhibit progressive motor and cognitive impairment and die within a few years of symptom onset. We used a lentiviral vector to transfer a functional ...

Last Updated: 23 Aug 2013

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Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy.
 

Author(s): Samuel Groeschel, Christine í Dali, Philipp Clas, Judith Böhringer, Morten Duno, Christian Krarup, Christiane Kehrer, Marko Wilke, Ingeborg Krägeloh-Mann

Journal: Neurology. 2012 Oct;79(16):1662-70.

 

Metachromatic leukodystrophy (MLD) is a rare metabolic disorder leading to demyelination and rapid neurologic deterioration. As therapeutic options evolve, it seems essential to understand and quantify progression of the natural disease. The aim of this study was to assess cerebral ...

Last Updated: 16 Oct 2012

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Correction of brain oligodendrocytes by AAVrh.10 intracerebral gene therapy in metachromatic leukodystrophy mice.
 

Author(s): Françoise Piguet, Dolan Sondhi, Monique Piraud, Françoise Fouquet, Neil R Hackett, Ornella Ahouansou, Marie-Thérèse Vanier, Ivan Bieche, Patrick Aubourg, Ronald G Crystal, Nathalie Cartier, Caroline Sevin

Journal: Hum. Gene Ther.. 2012 Aug;23(8):903-14.

 

Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder characterized by accumulation of sulfatides in glial cells and neurons, the result of an inherited deficiency of arylsulfatase A (ARSA; EC 3.1.6.8) and myelin degeneration in the central and peripheral nervous systems. ...

Last Updated: 20 Aug 2012

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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 "Metachromatic leukodystrophy" returned 2 free, full-text review articles on human participants. First 3 results:

Developing therapeutic approaches for metachromatic leukodystrophy.
 

Author(s): Shilpa A Patil, Gustavo H B Maegawa

Journal:

 

Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by the deficiency of arylsulfatase A (ASA), resulting in impaired degradation of sulfatide, an essential sphingolipid of myelin. The clinical manifestations of MLD are characterized by progressive ...

Last Updated: 22 Aug 2013

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Genetic heterogeneity in metachromatic leukodystrophy.
 

Author(s): H Kihara

Journal: Am. J. Hum. Genet.. 1982 Mar;34(2):171-81.

 

Last Updated: 21 Jun 1982

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Clinical Trial Information This information is provided by ClinicalTrials.gov

The Natural History of Metachromatic Leukodystrophy
 

Status: Recruiting

Condition Summary: Metachromatic Leukodystrophy

 

Last Updated: 1 Jul 2013

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Gene Therapy for Metachromatic Leukodystrophy
 

Status: Recruiting

Condition Summary: Metachromatic Leukodystrophy

 

Last Updated: 21 Mar 2012

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Imaging Study of the White Matter Lesions in Children With Metachromatic Leucodystrophy
 

Status: Recruiting

Condition Summary: Late Infantile Metachromatic Leukodystrophy

 

Last Updated: 13 Jun 2014

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