Metachromatic leukodystrophy

Common Name(s)

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

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.

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.

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 77 free, full-text research articles on human participants. First 3 results:

Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort.
 

Author(s): Christiane Kehrer, Samuel Groeschel, Birgit Kustermann-Kuhn, Friederike Bürger, Wolfgang Köhler, Alfried Kohlschütter, Annette Bley, Robert Steinfeld, Volkmar Gieselmann, Ingeborg Krägeloh-Mann,

Journal:

 

Metachromatic leukodystrophy (MLD) is a rare, genetic neurodegenerative disease. It leads to progressive demyelination resulting in regression of development and early death. With regard to experimental therapies, knowledge of the natural course of the disease is highly important. ...

Last Updated: 11 Feb 2014

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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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Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy.
 

Author(s): Ladislav Kuchař, Befekadu Asfaw, Helena Poupětová, Jitka Honzíková, František Tureček, Jana Ledvinová

Journal: Clin. Chim. Acta. 2013 Oct;425():153-9.

 

Prediagnostic steps in suspected metachromatic leukodystrophy (MLD) rely on clinical chemical methods other than enzyme assays. We report a new diagnostic method which evaluates changes in the spectrum of molecular types of sulfatides (3-O-sulfogalactosyl ceramides) in MLD urine.

Last Updated: 11 Oct 2013

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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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