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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

AllRefer Health - Metachromatic Leukodystrophy (Arylsulfatase A Deficiency, MLD)
metachromatic leukodystrophy (Arylsulfatase A Deficiency, MLD) information center covers causes, prevention, symptoms, diagnosis, treatment, incidence, risk
http://health.allrefer.com/health/metachromatic-leukodystrophy-info.html

Extractions: AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Go To Main Page Alternate Names : Arylsulfatase A Deficiency, MLD 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. 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.
AllRefer Health - Metachromatic Leukodystrophy Prognosis (Expectations) (Arylsul
metachromatic leukodystrophy (Arylsulfatase A Deficiency, MLD) information center covers Prognosis (Expectations). metachromatic leukodystrophy.
http://health.allrefer.com/health/metachromatic-leukodystrophy-prognosis.html

Extractions: AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia
BirdFoundation - In Gondola Per Pietro Ghezzo
metachromatic leukodystrophy (LDM). The Association Rare Diseases pioneer in the individuation of a cure for this severe genetic disease.
http://www.birdfoundation.org/leucodistrofia_eng.asp

Extractions: Clamorous news Yesterday on Nature Medicine, March 2001 Vol. 7 No. 3 Pag. 310-316, appeared the scientific paper on gene theraphy of Metachromatic Leukodystrophy using lentiviral vectors, which were able to transport the healthy ASA enzyme in the brain of mice with this disease, dissolving the noxious fats in both the brain hemispheres, and inducing the regression of the disease in these animals. The disease Metachromatic Leukodystrophy is a severe neurological disorder affecting the Central and the peripherical nervous system. In its more severe form the disease leads to infirmity and, soon after the beginning of the symptoms, to death. The disorder is due to a defect in the gene coding for the Arilsulfatase A enzyme, which avoid the excessive storage of sphyngolipids (noxious fats) in the neurons.
Bethanys Hope Foundation - What Is MLD?
metachromatic leukodystrophy (MLD), Metachromatic blindness. metachromatic leukodystrophy is inherited as an autosomal recessive trait.
http://www.bethanyshope.org/whatismld.html

Extractions: Metachromatic Leukodystrophy (MLD), the most common form of Leukodystrophy, is a rare inherited neurometabolic disorder affecting the white matter of the brain (Leukoencephalopathy). It is characterized by the accumulation of a fatty substance known as sulfatide (a sphingolipid) in the brain and other areas of the body (i.e., liver, gall bladder, kidneys, and/or spleen). The fatty protective covering on the nerve fibers (myelin) is lost from areas of the central nervous system (CNS) due to the buildup of sulfatide. Symptoms of Metachromatic Leukodystrophy may include convulsions, seizures, personality changes, spasticity, progressive dementia, motor disturbances progressing to paralysis, and/or visual impairment leading to blindness.
Bethanys Hope Foundation - Metachromatic Leukodystrophy Research (MLD)
20032004 Scientific Progress Report Bethanys Hope Foundation. Development of Gene Transfer Vectors for metachromatic leukodystrophy.
http://www.bethanyshope.org/ResearchUpdate.html

Extractions: Development of Gene Transfer Vectors for Metachromatic Leukodystrophy The long-term goal of this research is to develop a method to efficiently transfer genes to treat Metachromatic Leukodystrophy (MLD). Adeno associated virus (AAV) has been applied to different genetic diseases, such as Canavan and Niemann-Pick diseases which are characterized by degenerative neurological changes. Eventual application of this technology would culminate in the transfer of the arylsulfatase (ASA) gene to MLD patients to prevent the progressive decline in neurological function. rAAV-ASA vectors has been constructed using cytomegalovirus promoter which can drive gene expression both in neurons and oligodendrocytes. A producing cell line containing AAV2-Rep, AAV2-Cap and ASA genes has been established for consistent production of large-scale rAAV.
Leukodystrophy, Metachromatic
metachromatic leukodystrophy (MLD), the most common form of leukodystrophy, is a rare inherited neurometabolic disorder affecting the white matter of the brain
http://my.webmd.com/hw/health_guide_atoz/nord212.asp

Extractions: Metachromatic leukodystrophy, the most common form of leukodystrophy, is a rare inherited neurometabolic disorder affecting the white matter of the brain (leukoencephalopathy). It is characterized by the accumulation of a fatty substance known as sulfatide (a sphingolipid) in the brain and other areas of the body (i.e., liver, gall bladder, kidneys, and/or spleen). The fatty protective covering on the nerve fibers (myelin) is lost from areas of the central nervous system (CNS) due to the buildup of sulfatide. Symptoms of metachromatic leukodystrophy may include convulsions, seizures, personality changes, spasticity, progressive dementia, motor disturbances progressing to paralysis, and/or visual impairment leading to blindness.
Metachromatic Leukodystrophy
metachromatic leukodystrophy,. Print this article, a metachromatic leukodystrophy, Fig. 1. a, b. CT scan without contrast. Diffuse
http://www.amershamhealth.com/medcyclopaedia/medical/Volume VI 1/METACHROMATIC L

Extractions: Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Metachromatic leukodystrophy, a progressive autosomal recessive white matter lysosomal disease caused by a deficiency of the enzyme arylsulphatase A. The diagnosis is based on the finding of enzyme activity of arylsulphatase A in the urine and peripheral leukocytes. There are three principal forms: late infantile (presenting at the age 23 years), juvenile (presenting at 46 years), and the adult variant. The late infantile form is the most common. The child presents with difficulty in walking, marked by frequent falls within the second and third year of life. The disease progresses quickly with poor speech, mental deterioration, and hypertonia, which develops into decerebrate and decorticate posture within 36 months. Seizures are common. In the juvenile form, symptoms do not usually develop until 4 years. The clinical picture is similar to the late infantile form, except that the child is old enough to show behavioural disturbances as well. Pathologically, symmetrical demyelination with sparing of the U-fibres is found. Metachromatic sulphatides accumulate in the central and peripheral nervous system.
Metachromatic Leukodystrophy
metachromatic leukodystrophy,. Print this article, metachromatic leukodystrophy, Fig. 1. Twoyear-old child with metachromatic leukodystrophy. T2-weighted image.
http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/METACHROMATIC LE

Extractions: Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Metachromatic leukodystrophy, a lysosomal storage disorder which, when seen in children, usually presents with ataxia, dysphagia and progressive physical and mental deterioration. There is constipation and ichthyosis. Radiologically, on MR imaging there is increased signal in the white matter ( Fig.1 ), ventricular dilatation secondary to the brain atrophy and demyelination. The Encyclopaedia of Medical Imaging Volume VII Metachromatic leukodystrophy, Fig. 1 Two-year-old child with metachromatic leukodystrophy. T2-weighted image. Note diffuse increase in signal in the white matter at both the anterior and posterior horns of the ventricles. (Image courtesy of Dr. Ethna Phelan, Our Lady's Hospital, Dublin.)
CCHS Clinical Digital Library
metachromatic leukodystrophy Clinical Resources. Online Mendelian Inheritance in Man Homepage metachromatic leukodystrophy Access document;
http://cchs-dl.slis.ua.edu/clinical/metabolism/inborn/lysosomalstorage/sphingoli

Extractions: Clinical Resources by Topic: Metabolic Disorders Metachromatic Leukodystrophy Clinical Resources Pediatrics Radiology Pathology Genetics ... Miscellaneous Resources See also: Hoffman: Hematology: Basic Principles and Practice 3rd Ed.-2000 (MD Consult): Table of contents Health Sciences Library subscription INFO Goetz: Textbook of Clinical Neurology 2nd Ed.-2003 (MD Consult):
CCHS Clinical Digital Library
metachromatic leukodystrophy Patient/Family Resources. General Metabolic Disorders Patient/Family Resources; metachromatic leukodystrophy Clinical Resources.
http://cchs-dl.slis.ua.edu/patientinfo/metabolism/inborn/lysosomalstorage/sphing

Extractions: Patient/Family Resources by Topic: Metabolic Disorders Metachromatic Leukodystrophy Patient/Family Resources Spanish Miscellaneous See also: United Leukodystrophy Foundation Access document MEDLINE plus Medical Encyclopedia: Table of contents Spanish Miscellaneous Metachromatic Leukodystrophy Patient/Family Resources Healthfinder (US DHHS): Homepage National Library of Medicine MEDLINE plus Health Topics: Index YAHOO - Health:Diseases and Conditions:Metabolic Diseases
► Metachromatic Leukodystrophy
metachromatic leukodystrophy. metachromatic leukodystrophy (MLD) is transmitted as an autosomal recessive trait. MLD has a wide range of symptoms.
http://www.umm.edu/ency/article/001205.htm

Extractions: Causes, incidence, and risk factors: 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.
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.
Leukodystrophy, Metachromatic
metachromatic leukodystrophy (MLD), the most common form of leukodystrophy, is a rare inherited neurometabolic disorder affecting the white matter of the brain
http://www.bchealthguide.org/kbase/nord/nord212.htm

Extractions: It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Information on the following diseases can be found in the Related Disorders section of this report: Adrenoleukodystrophy Alexander's Disease Leukodystrophy, Canavan's
Metachromatic Leukodystrophy (Sulfatidosis)
metachromatic leukodystrophy (Sulfatidosis). metachromatic leukodystrophy is due to deficiency of cerebroside sulfatase. Sulfatide
http://moon.ouhsc.edu/kfung/JTY1/NeuroHelp/ZNF5IE01.htm

Extractions: Metachromatic Leukodystrophy (Sulfatidosis) NeuroLearn NeuroHelp Metabolic Lysosomal storage disorders, classification ... Gross Pathology BACKGROUND AND CLINICAL INFORMATION Head Summary: Sulfatidosis (metachromatic leukodystrophy) is a systemic disease that affects the CNS, PNS, and other organs. There are two common clinical subtypes and two rare clinical subtypes. Biochemically, it is characterized by abnormal catabolism of cerebroside sulfate resulted from deficiency of cerebrosulphatase and lead to accumulation ofcerebroside sulfate. The clinical test tests for arysulfatase A activity and pseudodeficiency can occur. Histologically characterized by demyelination and dysmyelination with accumulation of metachromatic inclusion bodies, presumably derivatives of cerebroside sulfate. Rare cases due to deficiency of saponin B, a co-factor necessary for cerebrosulphatase activity, can occur. Biochemistry: Cerebroside sulfate requires both cerebrosulphatase and saposin B, a co-factor, for its catabolism. The catabolism of sulfatide, a sphingolipid that is normal consistuent of myelin and cellular membranes, is defective in this disease. Metachromatic leukodystrophy is due to deficiency of cerebroside sulfatase. Sulfatide is stored in the lysosomes of oligodendrocytes and Schwann cells and also in many somatic tissues. No clinical manifestation is apparent when arylsulfatase is 10% or higher of normal level. Diagnostic test: In addition to the arylsulfatase, A deficiency, there is a loss of activity of arylsulfatases B and C, and other sulfatases involved in mucopolysaccharide degradation. Prenatal diagnosis can be made by enzymatic assay in aminocytes or chorionic villi. Pseudodeficiency may raise a difficult problem for prenatal diagnosis.
Metachromatic Leukodystrophy
metachromatic leukodystrophy. There are three distinct forms of metachromatic leukodystrophy (late infantile, juvenile, and adult). metachromatic leukodystrophy.
http://tjsamson.client.web-health.com/web-health/topics/GeneralHealth/generalhea

Extractions: Genetic Diseases- Neurological Metachromatic Leukodystrophy There are three distinct forms of metachromatic leukodystrophy (late infantile, juvenile, and adult). Each differs in its age of onset, symptoms, as well as expected survival. Metachromatic Leukodystrophy What is metachromatic leukodystrophy? There are three forms of metachromatic leukodystrophy: Late Infantile Juvenile Adult Although all inherited, they differ in their age of onset, their symptoms, and expected survival. In Late Infantile Metachromatic Leukodystrophy: This is the most common form. Juvenile Metachromatic Leukodystrophy: Symptoms appear between age four and fourteen. Difficulty with schoolwork is often the first thing that is noted. Symptoms are: Abnormal Posture
Metachromatic Leukodystrophy
metachromatic leukodystrophy. Definition metachromatic leukodystrophy is an inherited disease characterized by the absence of the
http://www.healthscout.com/ency/article/001205.htm

Extractions: Channels Home Today Women Men ... Drug Checker Advertisement Disease Injury Nutrition Poison ... Prevention 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).
Metachromatic Leukodystrophy
metachromatic leukodystrophy. Alternative Names Treatment At present, there is no treatment for metachromatic leukodystrophy itself.
http://www.healthscout.com/ency/article/001205trt.htm
Metachromatic Leukodystrophy- Medcohealth.com
metachromatic leukodystrophy is an inherited disease characterized by the absence of the enzyme arylsulfatase A, which causes a material called cerebroside
http://www.medcohealth.com/medco/consumer/ehealth/ehsarticle.jsp?topicID=HE:Dise
Metachromatic Leukodystrophy
More metachromatic leukodystrophy Categories » Submit Your Site to the metachromatic leukodystrophy category. Sponsored metachromatic leukodystrophy Sites.
http://www.iseekhealth.com/metachromatic_leukodystrophy-2013.php

Extractions: 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). NINDS - Metachromatic Leukodystrophy - A short information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke. The Stennis Foundation - The Stennis Foundation: Raising publicÂ awareness regarding MLD, and raising funds for MLD research.
Metachromatic Leukodystrophy And Nonverbal Learning Disability: Neuropsychologic
research article. metachromatic leukodystrophy and Nonverbal Learning Disability Neuropsychological and Neuroradiological Findings in Heterozygous Carriers.
http://www.szp.swets.nl/szp/journals/cn071054.htm

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