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  1. The Official Parent's Sourcebook on Metachromatic Leukodystrophy: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-09-11
  2. Leukodystrophies: Adrenoleukodystrophy, Canavan Disease, Pelizaeus-Merzbacher Disease, Metachromatic Leukodystrophy, Krabbe Disease
  3. Metachromatic leukodystrophy: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Igor, MD, PhD Medica, 2005

1. NINDS Metachromatic Leukodystrophy Information Page
metachromatic leukodystrophy information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).
http://www.ninds.nih.gov/health_and_medical/disorders/meta_leu_doc.htm
National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Browse all disorders Browse all health
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Table of Contents (click to jump to sections) What is Metachromatic Leukodystrophy?
Is there any treatment?

What is the prognosis?
What research is being done? ... Organizations What is Metachromatic Leukodystrophy? Metachromatic leukodystrophy (MLD) is one of a group of genetic disorders called the leukodystrophies Is there any treatment? There is no cure for MLD. Bone marrow transplantation may delay progression of the disease in some cases. Other treatment is symptomatic and supportive. What is the prognosis?

2. Introduction To Leukodystrophy
Krabbe Disease (Globoid Cell Leukodystrophy) metachromatic leukodystrophy (MLD) Neonatal Adrenoleukodystrophy Van der Knaap Syndrome (Vacuolating Leukodystrophy with Subcortical Cysts
http://www.ulf.org/ulf/intro
U NITED L EUKODYSTROPHY F OUNDATION
2304 Highland Drive * Sycamore, Illinois USA 60178 * Phone: (800) 728-5483 * FAX: (815) 895-2432
Introduction to Leukodystrophy
Outlined below are brief introductions to the leukodystrophies. Further extensive in-depth research information is available on these subjects and more through the ULF library of printed and videotape materials. When requesting further information please let us know whether you are a professional or lay-person so that we can respond with the appropriate information level.
Introduction
Patterns of Inheritance
Adrenoleukodystrophy (ALD)/Adrenomyeloneuropathy (AMN)
Aicardi-Goutieres Syndrome ...
Zellweger Syndrome INTRODUCTION The leukodystrophies are genetically determined progressive disorders that affect the brain, spinal cord and peripheral nerves. The term leukodystrophy derives from the Greek words "leuko" meaning white and referring to the white matter of the nervous system and "dystrophy" meaning imperfect growth or development. White matter is white to the naked eye because it contains a complex chemical substance called the myelin sheath. Myelin contains a variety of fatty substances or lipids. Its function is to insulate the axon through which nerve impulses are conducted, much as does insulation around an electric wire; the axon being the biological equivalent of the wire. The myelin sheath is a very complex substance. It is made up of at least ten, and probably more distinct chemicals. Each of the leukodystrophies affects one (and only one) of these substances that all affect the myelin sheath in some way, but otherwise, they are totally separate. Leukodystrophy of one type, does not in any way predispose to, or increase the risk of another type of leukodystrophy.

3. Metachromatic Leukodystrophy
metachromatic leukodystrophy. metachromatic leukodystrophy (MLD) is a genetic disorder caused by a deficiency of the
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Metachromatic Leukodystrophy
Metachromatic leukodystrophy (MLD) is a genetic disorder caused by a deficiency of the enzyme arylsulfatase A. It is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty coveringwhich acts as an insulatoron nerve fibers in the brain. There are three forms of MLD: late infantile, juvenile, and adult. In the late infantile form, which is the most common, onset of symptoms begins between ages 6 months and 2 years. The infant is usually normal at birth, but eventually loses previously gained abilities. Symptoms include hypotonia (low muscle tone), speech abnormalities, loss of mental abilities, blindness, rigidity (uncontrolled muscle tightness), convulsions, impaired swallowing, paralysis, and dementia. Symptoms of the juvenile form begin between ages 4 and 14, and include impaired school performance, mental deterioration, ataxia, seizures, and dementia.

4. EMedicine - Metachromatic Leukodystrophy : Article By Theodore Moore, MD
metachromatic leukodystrophy metachromatic leukodystrophy (MLD) is part of a larger group of lysosomal storage diseases, some of which are progressive
http://www.emedicine.com/ped/topic2893.htm
(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease
Metachromatic Leukodystrophy
Last Updated: May 26, 2004 Rate this Article Email to a Colleague Synonyms and related keywords: arylsulfatase A deficiency, MLD, neurodegenerative disorders, cerebroside sulfatide, galactosyl sulfatide, bone marrow transplantation, sulfatide sulfatase deficiency, sulfatide accumulation AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography
Author: Theodore Moore, MD , Director, UCLA Pediatric Bone Marrow Transplant Program, Clinical Director, Pediatric Hematology/Oncology; Associate Professor, Department of Pediatrics, Division of Pediatric Hematology/Oncology, University of California at Los Angeles Medical Center Coauthor(s): Robert D Steiner, MD , Head, Division of Metabolism, Associate Professor, Departments of Pediatrics and Molecular and Medical Genetics, Child Development and Rehabilitation Center, Theodore Moore, MD, is a member of the following medical societies:

5. The Family Village / Library / Leukodystrophy
Resources on Adrenoleukodystrophy, Alexander Disease, Canavan Disease, Krabbes Disease, metachromatic leukodystrophy, and Refsum's Disease.
http://www.familyvillage.wisc.edu/lib_leukodystrophy.html
Leukodystrophy
Types of Leukodystophy: Adrenoleukodystrophy, Alexander Disease, Canavan Disease, Krabbes Disease, Metachromatic Leukodystrophy, and Refsum's Disease
Who to Contact
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Who to Contact
United Leukodystrophy Foundation (ULF)
2304 Highland Drive
Sycamore IL 60718
(815) 895-2432 (fax)
E-mail: ulf@tbcnet.com
Website: http://www.ulf.org/
This is a nonprofit, voluntary health organization dedicated to providing patients and their families with information about their disease. In addition, it provides assistance in identifying sources of medical care, social services, and genetic counseling; establishing a communication network among families; increasing public awareness; acting as an information source for health care providers; and promoting and supporting research into causes, treatments, and prevention of the leukodystrophies. The ULF is supported solely by donations.
Where to Go to Chat with Others
Learn More About It

6. MedlinePlus Medical Encyclopedia: Metachromatic Leukodystrophy
metachromatic leukodystrophy is an inherited disease characterized by the absence of the metachromatic leukodystrophy (MLD) is transmitted as an autosomal recessive trait, which
http://www.nlm.nih.gov/medlineplus/ency/article/001205.htm
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Medical Encyclopedia
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Metachromatic leukodystrophy
Contents of this page: Alternative names MLD; Arylsulfatase A deficiency Definition Return to top Metachromatic leukodystrophy is an inherited disease characterized by the absence of the enzyme arylsulfatase A, which causes a material called cerebroside sulfate to accumulate in cells. This is toxic to the cell, especially neurons (the cells of the nervous system) and causes the problems of the disease. MLD is a member of a class of diseases called lysosomal storage disorders. In these diseases, patients lack a protein needed to metabolize the food we eat. Causes, incidence, and risk factors Return to top Metachromatic leukodystrophy (MLD) is transmitted as an autosomal recessive trait, which means that a person must inherit the defective gene from both parents to be affected. MLD has a wide range of symptoms. As with many other storage diseases, there are forms of early and delayed onset (late infant, juvenile, and adult types).

7. Metachromatic Leukodystrophy
a CHORUS notecard document about metachromatic leukodystrophy Disclaimer. Feedback. Search. metachromatic leukodystrophy. dysmyelinating disease Related documents dysmyelinating disease. leukodystrophy. adrenoleukodystrophy. Cockayne syndrome
http://chorus.rad.mcw.edu/doc/00263.html
CHORUS Collaborative Hypertext of Radiology Nervous system
Feedback

Search
metachromatic leukodystrophy
dysmyelinating disease
  • autosomal recessive
  • aryl sulfatase A absent from urine and serum
  • most present by 2 yrs, die at 3-4 yrs
  • may arise at any age
  • CT: decreased density of white matter, primarily in centrum semiovale
  • focal GB defects
Charles E. Kahn, Jr., MD - 2 February 1995
Last updated 26 May 2004

Medical College of Wisconsin

8. Metachromatic Leukodystrophy: Research Into Developing Therapies
UNIVERSITY of PITTSBURGHDEPARTMENT of HUMANGENETICS. Molecular Genetics Laboratory. metachromatic leukodystrophy Research Into Developing Therapies metachromatic leukodystrophy Research Into Developing Therapies. metachromatic leukodystrophy (MLD) is an inherited disease in which fatty
http://www.pitt.edu/~geneorb/metachromatic_leukodystrophy__new_approaches_to_tre
U NIVERSITY of P ITTSBURGH D EPARTMENT of H UMAN G ENETICS
Molecular Genetics Laboratory Metachromatic Leukodystrophy:
Research Into Developing Therapies
Metachromatic leukodystrophy (MLD) is an inherited disease in which fatty substances build up in the brain and spinal cord. This buildup happens in the part of the brain and spinal cord called the white matter, affecting a person's mental development and ability to move in a coordinated way. Most forms of MLD appear in early childhood, but the disease may also occur in adults. It usually leads to progressive paralysis and, in children, early death. MLD is a rare disease, affecting about one in 50,000 people. Traditional forms of treatment have not been very successful at combating MLD. However, promising new approaches from the fields of gene therapy and cell transplantation provide hope for the future. What causes MLD? MLD is caused by an inability to break down sulfatide a fatty substance normally present in the brain. Scientists have traced the development of MLD to a defect in the gene that tells the body how to make an enzyme called arylsulfatase A (ASA). ASA is the enzyme responsible for breaking down sulfatide into smaller, harmless chemicals that can be eliminated or reused by the body. In MLD, the lack of proper ASA enzyme leads to a buildup of sulfatide, which causes a process called demyelination. Demyelination causes the symptoms of MLD affecting communication between nerves in the brain.

9. MLD Foundation - Support For Families With Metachromatic Leukodystrophy (MLD)
Information, support, education and online networking for families throughout the world dealing with metachromatic leukodystrophy (MLD).
http://www.mldfoundation.org
The Premier Family Resource for Metachromatic Leukodystrophy A Listening Ear and a Caring Heart for families affected by Metachromatic Leukodystrophy...
Brianne's Hope for Miracle 8k/5k Wlak/Run

2nd Annual Fundraiser - Calgary, Alberta, Canada
Trimper/Saginaw Foundation to sponsor fellowship at Duke

Raising $50,000 a year for the next two years to advance myelin repair
"One Step Closer" MLD Fund Raiser

sponsored by the Stennis Foundation raised over $20,000 for MLD research.
Boston/New En
gland informal gathering
Wichita Adult family member informal gathering

Brianne's Hope for a Miracle

raised over $11,000 for MLD research Brianne's Memorial Walk/Run raised over $2,500 for MLD research (c) 2002-2004, MLD Foundation Donations Tax Exempt per IRS 501(c)3 s="na";c="na";j="na";f=""+escape(document.referrer) Is this your first time here? We're glad that you have found us and while many times your arrival here comes at a time of great personal trauma due to a recent diagnosis or encounter with MLD, we want you to know that you can count on us for support, information and to help you get connected with others that are also on the MLD journey. We welcome you and are here to offer you a Listening Ear and a Caring Heart.

10. NINDS - News And Events
Sorry! There are no press releases for metachromatic leukodystrophy. Use your browser s Back button to return to your previous activity.
http://www.ninds.nih.gov/health_and_medical/news.htm?url=/health_and_medical/dis

11. Natalie's Miracle
Natalie suffers from metachromatic leukodystrophy. This site is about her prayers for healing.
http://onin.com/natalie/
Natalie's Miracle This site is dedicated to the Lord Jesus Christ, the Savior, Healer, and Miracle Worker of the world. The Compassionate Great Physician "Rise up Natalie, I have healed you and made you whole."
Thank you for visiting the Natalie Meadows Fund web site. This site is currently under construction. We invite you to return often. We would appreciate your prayers and support for Natalie. Please e-mail us at natalies_miracle@onin.com or write us at: Barbara Meadows
P.O. Box 681522
Marietta, GA 30068 Visitor
Since 9 June 2001

Updated 2 September 2001

12. The Stennis Foundation
Raising public awareness regarding metachromatic leukodystrophy, and raising funds for MLD research.
http://www.stennisfoundation.org
The Stennis Foundation for MLD Online PO Box 30065 Amarillo, TX 79120 Welcome Contact Info E-Mail Upcoming Events ... Photos The Stennis Foundation is recognized by the IRS as a tax-exempt charitable organization under section 501(c)3. We need your gifts, large or small, to help us forcefully advance toward a cure for MLD. Donate online by clicking on the "Make a Donation" button or send your gifts to The Stennis Foundation P O Box 30065 Amarillo, TX 79120. Your support is appreciated!
Here at The Stennis Foundation We're diligently working so that 2004 Is when MLD will be no more!
The Stennis Foundation is now accepting proposals for MLD Research Funding. Submit proposals by mail to: PO Box 30065, Amarillo, TX 79120 or email in Microsoft Word format to: stennisfoundation@stennisfoundation.org Thank you for your interest in MLD Research! postCount('Got a Comment?'); postCountTB('Got a Comment?'); The Stennis Foundation: Raising public awareness regarding MLD

13. Bethanys Hope Foundation - For MLD Research
A Canadian foundation funding research and serving families dealing with metachromatic leukodystrophy disease (MLD) and other leukodystrophies.
http://www.bethanyshope.com
Bethany's Story What is MLD? Research Family Area ...
Help

Upcoming Events
“On the Wings of Hope”
Gala Ball 2004
Please accept our invitation to join us at our 9 th Annual Gala Ball.
This Year's Theme
"On the Wings of Hope"
The setting for this astonishing evening will be the beautiful Crystal Ballroom at the Lamplighter Inn on Saturday, May 8 th
After a fun filled cocktail hour and spectacular dinner we are sure to be wowed by the sounds of the Lighthouse Swing Band.
We would be thrilled to have you join us in what has truly become an annual celebration of “ hope For more information and tickets please contact us at (519) Online Ticket Order Form Downloadable Ticket Order Form With hope, Lindey McIntyre - Gala Ball Chair Click Here to add Bethanys Hope to your Favorites!

14. MLD Foundation - Support For Families With Metachromatic Leukodystrophy (MLD)
treatment information, education, and an online networking/support group for families throughout the world dealing with metachromatic leukodystrophy (MLD).
http://www.mldfamily.org/
The Premier Family Resource for Metachromatic Leukodystrophy A Listening Ear and a Caring Heart for families affected by Metachromatic Leukodystrophy...
Brianne's Hope for Miracle 8k/5k Wlak/Run

2nd Annual Fundraiser - Calgary, Alberta, Canada
Trimper/Saginaw Foundation to sponsor fellowship at Duke

Raising $50,000 a year for the next two years to advance myelin repair
"One Step Closer" MLD Fund Raiser

sponsored by the Stennis Foundation raised over $20,000 for MLD research.
Boston/New En
gland informal gathering
Wichita Adult family member informal gathering

Brianne's Hope for a Miracle

raised over $11,000 for MLD research Brianne's Memorial Walk/Run raised over $2,500 for MLD research (c) 2002-2004, MLD Foundation Donations Tax Exempt per IRS 501(c)3 s="na";c="na";j="na";f=""+escape(document.referrer) Is this your first time here? We're glad that you have found us and while many times your arrival here comes at a time of great personal trauma due to a recent diagnosis or encounter with MLD, we want you to know that you can count on us for support, information and to help you get connected with others that are also on the MLD journey. We welcome you and are here to offer you a Listening Ear and a Caring Heart.

15. Medical Encyclopedia: Metachromatic Leukodystrophy (Print Version)
Medical Encyclopedia metachromatic leukodystrophy. Treatment. At present, there is no treatment for metachromatic leukodystrophy itself.
http://www.nlm.nih.gov/medlineplus/print/ency/article/001205.htm
To print this page, use the print option from your browser.
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Medical Encyclopedia: Metachromatic leukodystrophy
URL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/001205.htm Alternative names MLD; Arylsulfatase A deficiency Definition Metachromatic leukodystrophy is an inherited disease characterized by the absence of the enzyme arylsulfatase A, which causes a material called cerebroside sulfate to accumulate in cells. This is toxic to the cell, especially neurons (the cells of the nervous system) and causes the problems of the disease. MLD is a member of a class of diseases called lysosomal storage disorders. In these diseases, patients lack a protein needed to metabolize the food we eat. Causes, incidence, and risk factors Metachromatic leukodystrophy (MLD) is transmitted as an autosomal recessive trait, which means that a person must inherit the defective gene from both parents to be affected. MLD has a wide range of symptoms. As with many other storage diseases, there are forms of early and delayed onset (late infant, juvenile, and adult types).

16. Introduction: Metachromatic Leukodystrophy - WrongDiagnosis.com
Introduction to metachromatic leukodystrophy as a medical condition including symptoms, diagnosis, misdiagnosis, treatment, prevention, and prognosis.
http://www.wrongdiagnosis.com/m/metachromatic_leukodystrophy/intro.htm
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Current chapter: Metachromatic Leukodystrophy Next sections Basic Summary for Metachromatic Leukodystrophy Prognosis of Metachromatic Leukodystrophy Types of Metachromatic Leukodystrophy Symptoms of Metachromatic Leukodystrophy ... Treatments for Metachromatic Leukodystrophy Next chapters: Microcephaly Miller Fisher Syndrome Cleft Palate Monomelic Amyotrophy ... Feedback
Introduction: Metachromatic Leukodystrophy
Metachromatic Leukodystrophy: Brain myelin genetic disorder with various subtypes. Metachromatic Leukodystrophy: Metachromatic leukodystrophy (MLD) is a genetic disorder caused by a deficiency of the enzyme arylsulfatase A. It is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty covering -which acts as an insulator - on nerve fibers in the brain. Contents for Metachromatic Leukodystrophy: Footnotes: 1. excerpt from

17. MedFriendly.com: Metachromatic Leukodystrophy
provides an easy to understand definition for the medical term, metachromatic leukodystrophy. TM, metachromatic leukodystrophy MedFriendly.com TM TM
http://www.medfriendly.com/metachromaticleukodystrophy.html
TM Metachromatic leukodystrophy
MedFriendly.com
TM
TM
A B C D ...
  • What is the origin of the term, "metachromatic leukodystrophy"?
    The Official Parent's SourceBook on Metachromatic Leukodystrophy (Official Parents Guide) WHAT IS IT? Metachromatic leukodystrophy is a type of metabolic disorder that leads to a deadly build up of fats (known as lipids) in the body and the destruction of myelin . Myelin is a fatty nerve covering that sends impulses quickly. A metabolic disorder means that there is some type of impairment in metabolism. Metabolism is a term for the chemical actions in cells that release energy from nutrients or that use energy to create other substances. A cell is the smallest, most basic unit of life, that is capable of existing by itself. Metachromatic leukodystrophy is an inherited disorder, meaning that it is passed on to the child from the parents' genes. Genes are units of material contained in a person's cells that contain coded instructions as for how certain bodily characteristics (such as eye color) will develop. All of a person's genes come from his/her parents. Genes are contained in structures called chromosomes. Each person has 23 pairs of chromosomes. In metachromatic leukodystrophy, chromosome 22 is dysfunctional because it is missing an enzyme known as arylsulfatase. An enzyme is a type of protein that helps produce chemical reactions in the body. Without the enzyme, arylsulfatase, a build up of metachromatic lipids occurs in the body. Metachromatic lipids are fatty substances that have changed colors. The technical name for the type of metachromatic lipids that build up in this condition is called galactosyl sulfatidates.
  • 18. NORD - National Organization For Rare Disorders, Inc.
    Late Infantile metachromatic leukodystrophy. General Discussion metachromatic leukodystrophy, the most common form of leukodystrophy, is a rare inherited
    http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Leukodystroph

    19. Metachromatic Leukodystrophy - Information / Diagnosis / Treatment / Prevention
    home neurological disorders demyelinating diseases leukodystrophy metachromatic leukodystrophy metachromatic leukodystrophy.
    http://www.healthcyclopedia.com/neurological-disorders/demyelinating-diseases/le

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    Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "metachromatic leukodystrophy"
    Health News: Search millions of published articles for news on Metachromatic Leukodystrophy Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: Bethanys Hope Foundation - For MLD Research A Canadian foundation funding research and serving families dealing with Metachromatic Leukodystrophy disease (MLD) and other leukodystrophies. MLD Foundation - Support for Families With Metachromatic Leukodystrophy Information, support, education and on-line networking for families throughout the world dealing with Metachromatic Leukodystrophy (MLD).

    20. Leukodystrophy - Information / Diagnosis / Treatment / Prevention
    Subtopics Leukodystrophy Adrenoleukodystrophy, Leukodystrophy Canavan. Leukodystrophy Krabbe Disease, Leukodystrophy metachromatic leukodystrophy.
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    Subtopics: Leukodystrophy > Adrenoleukodystrophy Leukodystrophy > Canavan Leukodystrophy > Krabbe Disease Leukodystrophy > Metachromatic Leukodystrophy Related Topics: Genetic Disorders Mental Health/Disorders/Child and Adolescent/Mental Retardation/Causes Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "leukodystrophy" Health News: Search millions of published articles for news on Leukodystrophy Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles.

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