MedFriendly.com: Metachromatic Leukodystrophy provides an easy to understand definition for the medical term, metachromaticleukodystrophy. metachromatic leukodystrophy WHAT IS IT? http://www.medfriendly.com/metachromaticleukodystrophy.html
Extractions: Metachromatic leukodystrophy WHAT IS IT? Metachromatic leukodystrophy is a disorder in which myelin (a fatty nerve covering that sends impulses quickly) is lost because chromosome 22 (one of 46 structures that transmits genetic information) is missing a part (an enzyme called arylsulfatase) that changes a major component of myelin. Myelin is widely destroyed in the cerebrum, (the top section of the brain), cerebellum (a part in the back lower area of the brain important for movement), spine, and the peripheral nerves (nerves outside of the brain and spine). In addition to myelin loss, this condition causes a buildup of metachromatic lipids (fatty substances that changed colors) in the white matter (white looking substance) of the central and peripheral nervous systems. The technical name for the type of metachromatic lipids that build up in this condition is called galactosyl sulfatidates. Metachromatic leukodystrophy is a metabolic disorder. A metabolic disorder is one in which the ability to regulate certain bodily functions related to the distribution of nutrients throughout the body is impaired. WHO USUALLY GETS METACHROMATIC LEUKODYSTROPHY?
Nature Publishing Group doi10.1038/85454 March 2001 Volume 7 Number 3 pp 310 316 In vivo gene therapyof metachromatic leukodystrophy by lentiviral vectors correction of http://www.nature.com/cgi-taf/DynaPage.taf?file=/nm/journal/v7/n3/full/nm0301_31
Nature Publishing Group Mesenchymal Stem Cells. Allogeneic mesenchymal stem cell infusion for treatmentof metachromatic leukodystrophy (MLD) and Hurler syndrome (MPSIH). http://www.nature.com/cgi-taf/DynaPage.taf?file=/bmt/journal/v30/n4/full/1703650
Health Ency.: Disease: Metachromatic Leukodystrophy metachromatic leukodystrophy. metachromatic leukodystrophy (MLD) is transmittedas an autosomal recessive trait. MLD has a wide range of symptoms. http://www.austin360.com/shared/health/adam/ency/article/001205.html
Extractions: Important notice Ency. home Disease M Metachromatic leukodystrophy Overview Symptoms Treatment Prevention Alternative names: MLD; Arylsulfatase A deficiency Definition: Metachromatic leukodystrophy is an inherited metabolic storage disease characterized by the absence of the enzyme arylsulfatase A and increased storage of sulfatide. Causes and Risks 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.
Health Ency.: Disease: Metachromatic Leukodystrophy metachromatic leukodystrophy. At present, there is no treatment for metachromaticleukodystrophy itself. Symptomatic treatments may provide mild relief. http://www.austin360.com/shared/health/adam/ency/article/001205trt.html
Extractions: Important notice Ency. home Disease M Metachromatic leukodystrophy Overview Symptoms Treatment Prevention Alternative names: MLD; Arylsulfatase A deficiency Treatment At present, there is no treatment for metachromatic leukodystrophy itself. Symptomatic treatments may provide mild relief. Prognosis Metachromatic leukodystrophy is a severely debilitating progressive disease whose outcome is fatal. Complications Call Your Health Care Provider If: Call your health care provider if you have a family history of this disease or if you notice symptoms suggestive of this disorder. Ency. home Disease M Please read this Important notice Also Check Out
Metachromatic Leukodystrophy Of The Brain metachromatic leukodystrophy of Brain From the Virtual Pathology Museum,Department of Pathology, University of Connecticut Health Center. http://radiology.uchc.edu/eAtlas/CNS/1723.htm
Florida State University College Of Medicine Digital Library metachromatic leukodystrophy Patient/Family Resources. General Metabolic DisordersPatient/Family Resources; metachromatic leukodystrophy Clinical Resources. http://fsumed-dl.slis.ua.edu/patientinfo/metabolism/inborn/lysosomalstorage/sphi
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
Florida State University College Of Medicine Digital Library metachromatic leukodystrophy Clinical Resources. Pediatric Database (PEDBASE)List of documents metachromatic leukodystrophy Access document. http://fsumed-dl.slis.ua.edu/clinical/metabolism/inborn/lysosomalstorage/sphingo
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 Medical Library subscription INFO Goetz: Textbook of Clinical Neurology 1st Ed.-1999 (MD Consult):
ESynopsis Of Metachromatic Leukodystrophy Of The Brain eSynopsis of metachromatic leukodystrophy of Brain From the Electonic Synopsis ofPathology, the University of Connecticut School of Medicine, Department of http://esynopsis.uchc.edu/S460.htm
Metachromatic Leukodystrophy metachromatic leukodystrophy. from the Metachromic org). AN OVERVIEW OFMLD MLD stands for metachromatic leukodystrophy. Translated from http://uscneurosurgery.com/glossary/m/metachromatic leukodystrophy.htm
Extractions: Genetics - MLD is caused by a genetic defect that results in the lack of a lysosomal enzyme, Arylsulfatase A. This enzyme normally breaks down substances called sulfatides. The missing enzyme causes sulfatides to increase in brain, peripheral nerves, liver, and kidney*. The accumulations are usually most obvious in the white matter of the central nervous system (CNS) and the peripheral nerves. Sulfatides cause the breakdown of the
Bethanys Hope Foundation - For MLD Research metachromatic leukodystrophy (MLD), Metachromatic blindness. MetachromaticLeukodystrophy is inherited as an autosomal recessive trait. http://www.bethanyshope.com/whatismld.html
Bethanys Hope Foundation - For MLD Research Bethany's Story, What is MLD? Research, Family Area, Foundation. Home. Microscope,The Team, Research Lab, Help. Bethany's Story, What Is MLD? Foundation Research, http://www.bethanyshope.com/research.html
CCHS Clinical Digital Library metachromatic leukodystrophy Clinical Resources. Pediatric Database (PEDBASE)List of documents 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 1st Ed.-1999 (MD Consult):
Leucodistrofie/METACHROMATIC LEUKODYSTROPHY vi) LEUCODISTROFIA METACROMATICA (metachromatic leukodystrophy). DEFINITION Synonymsmetachromatic leukodystrophy; Mucolipidoses, Types II and III;ARSA;. http://www.peacelink.it/appeal/gianmarco/vi.html
Extractions: M = F PATHOGENESIS: 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 Genetic Defect genetic defects -> deficiency of arylsulfatase A activity -> accumulation of sulfatide within lysosomes in the CNS white matter -> neurological manifestations
Extractions: 1Up Health Metachromatic leukodystrophy Alternative Medicine Clinical Trials ... Health Topics A-Z Search 1Up Health Metachromatic leukodystrophy Information Metachromatic leukodystrophy Causes, Incidence, and Risk Factors Alternative names : Arylsulfatase A deficiency, MLD Definition : Metachromatic leukodystrophy is an inherited metabolic storage disease characterized by the absence of the enzyme arylsulfatase A and increased storage of sulfatide. 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.
Extractions: 1Up Health Alternative Medicine Clinical Trials Health News ... Health Topics A-Z Search 1Up Health Metachromatic leukodystrophy Information Guide Alternative names : Arylsulfatase A deficiency, MLD Definition : Metachromatic leukodystrophy is an inherited metabolic storage disease characterized by the absence of the enzyme arylsulfatase A and increased storage of sulfatide. A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial reviewers . A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).
NORD - National Organization For Rare Disorders, Inc. Late Infantile metachromatic leukodystrophy. General Discussion metachromatic leukodystrophy(MLD), the most common form of leukodystrophy, is a rare inherited http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Leukodystroph
Health Library - Leukodystrophy, Metachromatic metachromatic leukodystrophy (MLD), the most common form of leukodystrophy, is arare inherited neurometabolic disorder affecting the white matter of the brain http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw