Metachromatic leukodystrophy

Common Name(s)

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

Metachromatic leukodystrophy (MLD) is a rare genetic condition that causes a buildup of a specific type of fat (sulfatides) in brain and spinal cord cells. This buildup causes leukodystrophy, which is progressive destruction of cells that have a myelin coating (white matter) in the brain and spinal cord. Destruction of these cells leads to the inability to think clearly and perform physical tasks. Individuals with MLD lose the ability to perform daily functions over time, such as talking and walking. As the disease progresses, individuals lose awareness of where they are and eventually become unresponsive. Blindness, seizures and hearing loss may also occur. There are three forms of MLD: late infantile form, juvenile form, and adult form. The late infantile form, which is the most common form, begins in the second year of life and progresses rapidly. The juvenile form typically begins between 4 years of age and teenage years, while the adult form starts after the teenage years.

MLD, which is an autosomal recessive condition, occurs when a person has mutations (changes) in both copies of the ARSA gene. This gene tells the body how to make the arylsulfatase A enzyme, which is responsible for breaking down sulfatides within cells. A decrease in this enzyme leads to the buildup of sulfatides within the cell. A doctor can diagnose MLD by collecting a medical history and performing a physical exam, as well as performing brain-imaging tests. A magnetic resonance imaging (MRI) test may be used to check for signs of leukodystrophy in the brain. Genetic testing of the ARSA gene is typically performed to confirm the diagnosis. There is currently not a cure for MLD. Treatment involves addressing symptoms of MLD, such as seizure control. This is a very serious condition and, if you or your child has this diagnosis, it may be helpful to speak with a doctor or therapist to gain additional information and support.

Source: Advocacy organizations associated with the condition.

 

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 Oct 2017

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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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General Support Organizations

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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 Oct 2017

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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 Support Organizations

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General Resources

Current MLD Research & Clinical Trial Updates

An overview of current MLD research

Uploaded By: MLD Foundation

Updated 5 Jan 2013

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MLD 101- An Overview of MLD

A layman's introduction to MLD

Uploaded By: MLD Foundation

Updated 22 Sep 2015

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

Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome.
 

Author(s): Jonas Alex Morales Saute, Carolina Fischinger Moura de Souza, Fabiano de Oliveira Poswar, Karina Carvalho Donis, Lillian Gonçalves Campos, Adriana Vanessa Santini Deyl, Maira Graeff Burin, Carmen Regla Vargas, Ursula da Silveira Matte, Roberto Giugliani, Maria Luiza Saraiva-Pereira, Leonardo Modesti Vedolin, Lauro José Gregianin, Laura Bannach Jardim

Journal: Arq Neuropsiquiatr. 2016 Dec;74(12):953-966.

 

To describe survival and neurological outcomes after HSCT for these disorders.

Last Updated: 31 Dec 1969

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Acetobacter indonesiensis Bacteremia in Child with Metachromatic Leukodystrophy.
 

Author(s): Rebekka Kohlmann, Karin Barenberg, Agnes Anders, Sören G Gatermann

Journal: Emerging Infect. Dis.. 2016 09;22(9):1681-3.

 

Last Updated: 31 Dec 1969

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Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience.
 

Author(s): Diane F van Rappard, Jaap J Boelens, Martje E van Egmond, Jurgen Kuball, Peter M van Hasselt, Kim J Oostrom, Petra J W Pouwels, Marjo S van der Knaap, Carla E M Hollak, Nicole I Wolf

Journal: Blood. 2016 06;127(24):3098-101.

 

Last Updated: 31 Dec 1969

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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 5 free, full-text review articles on human participants. First 3 results:

Gene therapy for lysosomal storage disorders: recent advances for metachromatic leukodystrophy and mucopolysaccaridosis I.
 

Author(s): Rachele Penati, Francesca Fumagalli, Valeria Calbi, Maria Ester Bernardo, Alessandro Aiuti

Journal: J. Inherit. Metab. Dis.. 2017 07;40(4):543-554.

 

Lysosomal storage diseases (LSDs) are rare inherited metabolic disorders characterized by a dysfunction in lysosomes, leading to waste material accumulation and severe organ damage. Enzyme replacement therapy (ERT) and haematopoietic stem cell transplant (HSCT) have been exploited ...

Last Updated: 31 Dec 1969

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Gene therapy for metachromatic leukodystrophy.
 

Author(s): Jonathan B Rosenberg, Stephen M Kaminsky, Patrick Aubourg, Ronald G Crystal, Dolan Sondhi

Journal: J. Neurosci. Res.. 2016 11;94(11):1169-79.

 

Leukodystrophies (LDs) are rare, often devastating genetic disorders with neurologic symptoms. There are currently no disease-specific therapeutic approaches for these diseases. In this review we use metachromatic leukodystrophy as an example to outline in the brief the therapeutic ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Autologous Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy and Adrenoleukodystrophy
 

Status: Recruiting

Condition Summary: Metachromatic Leukodystrophy; Adrenoleukodystrophy

 

Last Updated: 23 Sep 2015

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A Safety and Efficacy Study of Cryopreserved GSK2696274 for Treatment of Metachromatic Leukodystrophy (MLD)
 

Status: Recruiting

Condition Summary: Lysosomal Storage Disease

 

Last Updated: 2 Jan 2018

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MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis Disorders; Hurler Syndrome; Hunter Syndrome; Maroteaux Lamy Syndrome; Sly Syndrome; Alpha-Mannosidosis; Fucosidosis; Aspartylglucosaminuria; Glycoprotein Metabolic Disorders; Sphingolipidoses; Recessive Leukodystrophies; Globoid Cell Leukodystrophy; Metachromatic Leukodystrophy; Niemann-Pick B; Niemann-Pick C Subtype 2; Sphingomyelin Deficiency; Peroxisomal Disorders; Adrenoleukodystrophy With Cerebral Involvement; Zellweger Syndrome; Neonatal Adrenoleukodystrophy; Infantile Refsum Disease; Acyl-CoA Oxidase Deficiency; D-Bifunctional Enzyme Deficiency; Multifunctional Enzyme Deficiency; Alpha-methylacyl-CoA Racmase Deficiency; Mitochondrial Neurogastrointestingal Encephalopathy; Severe Osteopetrosis; Hereditary Leukoencephalopathy With Axonal Spheroids (HDLS; CSF1R Mutation); Inherited Metabolic Disorders

 

Last Updated: 19 Jan 2018

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