1. NINDS Metachromatic Leukodystrophy Information Page A short information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke.Category Health Conditions and Diseases......metachromatic leukodystrophy information sheet compiled by the NationalInstitute 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 organizations More about Metachromatic Leukodystrophy Studies with patients Research literature Press releases Search NINDS... (help) Contact us My privacy NINDS is part of the National Institutes of Health NINDS Metachromatic Leukodystrophy Information Page Reviewed 11-19-2001 Get Web page suited for printing Email this to a friend or colleague 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? 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? The prognosis for MLD is poor. Death generally occurs within 6 to 14 years after onset of symptoms. In the infantile form death may occur between 3 and 6 years after onset. What research is being done?

2. Metachromatic Leukodystrophy (MLD) The metachromatic leukodystrophy (MLD) Page is no longer being maintained. http://www.duke.edu/~pdrh/MLD.html

The Metachromatic Leukodystrophy (MLD) Page is no longer being maintained.

3. Metachromatic Leukodystrophy metachromatic leukodystrophy. dysmyelinating disease autosomal recessive;aryl sulfatase A absent from urine and serum; most present 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 14 March 2001 Medical College of Wisconsin

4. Pediatric Database - Metachromatic Leukodystrophy PedBase covers the disease with an outline that includes clinical features and a background. metachromatic leukodystrophy. DEFINITION A lysosomal storage disorder characterized by the accummulation of lipid http://www.icondata.com/health/pedbase/files/METACHRO.HTM

Pediatric Database (PEDBASE) Discipline: MET Last Updated: 12/23/94 METACHROMATIC LEUKODYSTROPHY DEFINITION: A lysosomal storage disorder characterized by the accummulation of lipid (sulfatide) primarily in the central nervous system (CNS) resulting in 3 clinical variants. EPIDEMIOLOGY: incidence: 1/100,000 age of onset: 12-18 months (Type I); 4-12 years (Type II); after puberty (Type III) risk factors: familial - autosomal recessive chrom.#: 22q13.31-qter gene: arylsulfatase A (ARSA) M = F PATHOGENESIS: 1. Background arylsulfatase A is a lysosomal enzyme which catalyzes the hydrolysis of the 3-O-sulfate linkages of cerebroside sulfate (sulfatide) to form galactocerebroside deficiency of arylsulfatase A in MLD first reported by in 1963 by Austin a sphingolipid activator protein (SAP-1) is necessary for the in vivo hydrolysis of sulfatide in MLD, galactosyl sulfatide and to a smaller extent lactosyl sulfatide accumulate in the white matter of the CNS, in the peripheral nerves, and to a lesser extent in the kidneys, gallbladder, and other visceral organs accumulation of sulfatides in the myelin sheath results in the progressive breakdown of membranes of the myelin sheath 2. Genetic Defect

5. Metachromatic Leukodystrophy Presents MLD information to the general public, describing the three forms late infantile, juvenile and adult. metachromatic leukodystrophy. metachromatic leukodystrophy (MLD) is a genetic disorder caused by a deficiency of the http://healthlink.mcw.edu/article/921440824.html

Search Articles: search tips Please Take the HealthLink Survey Email this article Print this article Find related articles: By topic: Neurology By keywords: Receive Health Link via email! Subscribe now >> 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.

6. MEDLINEplus Medical Encyclopedia: Metachromatic Leukodystrophy metachromatic leukodystrophy (MLD) is transmitted as an autosomal recessive trait. http://www.nlm.nih.gov/medlineplus/ency/article/001205.htm

Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Metachromatic leukodystrophy Contents of this page: Alternative names Definition Causes, incidence, and risk factors Symptoms ... Prevention Alternative names MLD; Arylsulfatase A deficiency Definition Return to top Metachromatic leukodystrophy is an inherited metabolic storage disease characterized by the absence of the enzyme arylsulfatase A and increased storage of sulfatide. Causes, incidence, and risk factors Return to top Metachromatic leukodystrophy (MLD) is transmitted as an autosomal recessive trait. 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). The most common (and the most severe form) is the late infant onset form, which has symptoms such as irritability decreased muscle tone muscle wasting , the loss of the ability to walk. Debility is progressive with blindness seizures , and partial paralysis . Death occurs usually before age 10. Both the juvenile and adult forms have later onset but similar symptoms. In the adult and juvenile forms

7. Metachromatic Leukodystrophy: Research Into Developing Therapies metachromatic leukodystrophy (MLD) is an inherited disease in which fatty substances build up in the brain and spinal 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.

8. 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 Where to Go to Chat with Others Learn More About It Web Sites ... Search AltaVista for "Leukodystrophy" 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 ULF List of Online Discussion Groups Krabbes E-mail Contacts Inborn Errors of Metabolism Discussion Groups Learn More About It Adrenoleukodystrophy From PEDBASE Alexander Disease From Online Mendelian Inheritance in Man (OMIM) Canavan Disease From Online Mendelian Inheritance in Man (OMIM) Canavan's Disease From PEDBASE Krabbe Disease From Online Mendelian Inheritance in Man (OMIM) Krabbes Disease: Basic Information From the Krabbes Disease Homepage Metachromatic Leukodystrophy From PEDBASE

9. Metachromatic Leukodystrophy Of The Brain metachromatic leukodystrophy of the Brain From the Virtual Pathology Museum, Department of Pathology, University of Connecticut Health Center low power view of white matter in metachromatic leukodystrophy, showing many macrophages and granular collections of http://radiology.uchc.edu/Code/1625.htm

Metachromatic Leukodystrophy, Brain Metachromatic Leukodystrophy (low power) •A low power view of white matter in MLD showing the collections of granular myelin debris and macrophages. •MLD is most commanly seen in children who progress normally to a certain age than regress to coma and death. •Adult forms are also seen. Image Contrib. by:Margaret Grunnet, M.D. UCHC Description by: Margaret Grunnet, M.D. ( 1724-5529) More Information

10. 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 Information MLD Research MLD Cure A Listening Ear and a Caring Heart for families affected by Metachromatic Leukodystrophy... MLD'2002 was held in Pittsburgh. Legal and graphics arts help have recently been donated to help us with the growth of the Foundation Our new web site is here. Be sure to visit the brand new MLD-101. Your feedback is welcomed! (c) 2002, MLD Foundation 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. Be sure to check out all of what we have to offer. The MLD Family is where you can connect with others, and MLD-101 is where you can get a comprehensive, yet very readable, overview of MLD and how to deal with it in your family.

11. 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

12. OMIM - Metachromatic Leukodystrophy Online Mendelian Inheritance in Man covers MLD, including sections on gene maps, research models and molecular mutations. http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?250100

13. 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

14. 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 Welcome Contact Us Donate Online E-Mail ... Photos Here at The Stennis Foundation We're diligently working so that 2003 Is when a cure is found for MLD! click on logo to enter site The Stennis Foundation: Raising public awareness regarding MLD, and raising funds for MLD research. top Home Welcome Contact Information ... Links The Stennis Foundation P.O. Box 30065 Amarillo, Texas 79120 Phone: (806) 467-2747 E-mail: stennisfoundation@stennisfoundation.org

15. 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 Foundation Events 2003 Mar 2 Mardi Gras Dinner Marla Jane's Restaurant Click on the link above for more information. Apr 6 Beary Special Brunch 2003 Tiger Jack's Bar and Grill 11:00 am - 3:00 pm Click on the link above for more information. May 10 Gala Ball - "Somewhere over the Rainbow" Crystal Ballroom - Lamplighter Inn Click on the link above for more information. Aug 21 Ladies Tournament of Hope 2003 Cobble Hills Golf and Country Club Click on the link above for more information. Click Here to add Bethanys Hope to your Favorites! McAuley - My Child Bethanys Hope Foundation Site Last Updated: February 4, 2003 var site="s12bethany"

16. EMedicine - Metachromatic Leukodystrophy : Article By Theodore Moore, MD metachromatic leukodystrophy metachromatic leukodystrophy (MLD) is part ofa larger group of lysosomal storage diseases, some of which are progressive http://www.emedicine.com/ped/topic2893.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Metachromatic Leukodystrophy Last Updated: June 6, 2002 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, Oregon Health and Science University Theodore Moore, MD, is a member of the following medical societies:

17. Introduction To Leukodystrophy Symptoms presented with this disease, the diagnosis and the treatment.Category Health Conditions and Diseases...... metachromatic leukodystrophy (MLD). DEFINITION The Metachromatic Leukodystrophies(MLD) are a group of degenerative white matter diseases. 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.

18. Partners Leukodystrophy Service At MGH metachromatic leukodystrophy. After XALD, metachromatic leukodystrophy(MLD) is the most frequently observed leukodystrophy. It http://fisher.mgh.harvard.edu/leuko/metochromatic.html

Home Staff Services Leukodystrophy categories Contact us Links X-linked Adrenoleukodystrophy Metachromatic leukodystrophy Globoid cell leukodystrophy Pelizaeus-Merzbacher disease CACH Metachromatic leukodystrophy After X-ALD , Metachromatic leukodystrophy (MLD) is the most frequently observed leukodystrophy. It is a progressive disorder, transmitted by autosomal recessive inheritance. It is associated with the accumulation of sulfatides (ganglioside) in brain, kidney, liver and gall bladder. The metabolic abnormality lies in the absence or reduction of Arylsulfatase A function resulting in sulfatide accumulation and a demyelinating brain disorder. MLD manifests in a late infantile, juvenile and adult form. A progressive dementia is the primary manifestation of the disease. Peripheral neuropathy is a prominent disease manifestation in the late infantile and juvenile forms. Patients with the adult form of MLD may initially present with psychiatric disease or, more rarely, isolated peripheral neuropathy. Unlike X-ALD, MLD demonstrated a close genotype to phenotype correlation with only one form of the disease developing in a particular family. The disorder can be diagnosed by detecting sulfatide accumulation in urine. Arylsulfatase activity can be assayed in fibroblasts, but one must take care to distinguish between real and pseudodeficiency.

19. MLD Foundation - Support For Families With Metachromatic Leukodystrophy (MLD) treatment information, education, and an online networking/support group for familiesthroughout the world dealing with metachromatic leukodystrophy (MLD). http://www.mldfamily.org/

The Premier Family Resource for Metachromatic Leukodystrophy Information MLD Research MLD Cure A Listening Ear and a Caring Heart for families affected by Metachromatic Leukodystrophy... MLD'2002 was held in Pittsburgh. Legal and graphics arts help have recently been donated to help us with the growth of the Foundation Our new web site is here. Be sure to visit the brand new MLD-101. Your feedback is welcomed! (c) 2002, MLD Foundation 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. Be sure to check out all of what we have to offer. The MLD Family is where you can connect with others, and MLD-101 is where you can get a comprehensive, yet very readable, overview of MLD and how to deal with it in your family.

20. MLD 101 - A Layperson's Overview Of Metachromatic Leukodystrophy Genetics, Resea Overview of metachromatic leukodystrophy (MLD) for families diagnosis, treatment(bone marrow transplant / MSC transplant), therapy, care, etc. http://www.mldfamily.org/MLD101.html

A Listening Ear and a Caring Heart for families affected by Metachromatic Leukodystrophy... MLD'2002 was held in Pittsburgh. Legal and graphics arts help have recently been donated to help us with the growth of the Foundation Our new web site is here. Be sure to visit the brand new MLD-101. Your feedback is welcomed! (c) 2002, MLD Foundation s="na";c="na";j="na";f=""+escape(document.referrer) MLD 101 - An Overview of Metachromatic Leukodystrophy for the Layperson Please see our about how to use this information This page is a work in process. Please be patient and check back often to see the new links and information! Please read this page for an overview or jump to a topic using the following quick links: An Overview of MLD Definition History - the discovery of MLD Genetics - what causes MLD Frequency - how often does MLD occur CT/MRI Imaging Studies Electrophysiologic Conduction Studies Pathology - staining Bone marrow transplants MSC Transplants Gene Transfer Care of Your MLD Family Member this topic is under development Care of your MLD family member Drugs and Metachromatic Leukodystrophy Physical Therapy, Scoliosis, etc.

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