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: 1 May 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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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: 1 May 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 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 78 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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Quantification of sulfatides in dried blood and urine spots from metachromatic leukodystrophy patients by liquid chromatography/electrospray tandem mass spectrometry.
 

Author(s): Mariana Barcenas, Teryn R Suhr, C Ronald Scott, Frantisek Turecek, Michael H Gelb

Journal: Clin. Chim. Acta. 2014 Jun;433():39-43.

 

Treatments are being developed for metachromatic leukodystrophy (MLD), suggesting the need for eventual newborn screening. Previous studies have shown that sulfatide molecular species are increased in the urine of MLD patients compared to samples from non-MLD individuals, but there ...

Last Updated: 29 May 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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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 3 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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Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature.
 

Author(s): Asif Mahmood, Jay Berry, David A Wenger, Maria Escolar, Magdi Sobeih, Gerald Raymond, Florian S Eichler

Journal: J. Child Neurol.. 2010 May;25(5):572-80.

 

Metachromatic leukodystrophy is a rare disorder with great clinical variability. We report the first case of triplets with the late infantile form of the disease and their systematic progression of symptoms. We reviewed the literature and identified all human studies that reported ...

Last Updated: 23 Apr 2010

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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

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

Status: Recruiting

Condition Summary: Late Infantile Metachromatic Leukodystrophy

 

Last Updated: 20 Apr 2015

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Intracerebral Gene Therapy for Children With Early Onset Forms of Metachromatic Leukodystrophy
 

Status: Recruiting

Condition Summary: Metachromatic Leukodystrophy

 

Last Updated: 28 Jan 2014

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

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; Sphingolipidosis; Gangliosidosis; Globoid Cell Leukodystrophy; Metachromatic Leukodystrophy; Niemann Pick B; Niemann Pick C Subtype 2; I-cell Disease

 

Last Updated: 19 Jun 2015

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