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Metachromatic Leukodystrophy: more detail

The Official Parent's Sourcebook on Metachromatic Leukodystrophy: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-09-11

Leukodystrophies: Adrenoleukodystrophy, Canavan Disease, Pelizaeus-Merzbacher Disease, Metachromatic Leukodystrophy, Krabbe Disease

Metachromatic leukodystrophy: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Igor, MD, PhD Medica, 2005

lists with details

NINDS Metachromatic Leukodystrophy Information Page
A short information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke.Category Health Conditions and Diseasesmetachromatic 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
Metachromatic Leukodystrophy (MLD)
The metachromatic leukodystrophy (MLD) Page is no longer being maintained.
http://www.duke.edu/~pdrh/MLD.html
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
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
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

Extractions: Subscribe now >> 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.
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

Extractions: Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Contents of this page: 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.
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

Extractions: 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.
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

Extractions: 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. Adrenoleukodystrophy
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

Extractions: 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
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

Extractions: 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.
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
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
Natalie's Miracle
Natalie suffers from metachromatic leukodystrophy. This site is about her prayers for healing.
http://onin.com/natalie/
The Stennis Foundation
Raising public awareness regarding metachromatic leukodystrophy, and raising funds for MLD research.
http://www.stennisfoundation.org
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
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

Extractions: (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 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:
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/

Extractions: 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.
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

Extractions: Home Staff Services Leukodystrophy categories Contact us Links X-linked Adrenoleukodystrophy Metachromatic leukodystrophy Globoid cell leukodystrophy Pelizaeus-Merzbacher disease CACH 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.
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/

Extractions: 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.
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

Extractions: s="na";c="na";j="na";f=""+escape(document.referrer) MLD 101 - An Overview of Metachromatic Leukodystrophy for the Layperson 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

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