21. 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

A B C D ... Z 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?

22. Metachromatic Leukodystrophy - HUM-MOLGEN Author, Topic metachromatic leukodystrophy. Natalia Olkhovich unregistered,posted 0317-2002 1252 PM Edit/Delete Message Reply w/Quote http://www.hum-molgen.de/bb/Forum2/HTML/000101.html

home genetic news bioinformatics biotechnology ... DIAGnostics - Clinical Research (professional requests) metachromatic leukodystrophy profile register preferences faq ... next oldest topic Author Topic: metachromatic leukodystrophy Natalia Olkhovich unregistered posted 03-17-2002 12:52 PM Is there anyone interested on mutation detection on MLD patients originating from the Ukraine with variable phenotypic expression? IP: 195.64.227.130 All times are ET (US) next newest topic next oldest topic Administrative Options: Close Topic Archive/Move Delete Topic Hop to: Select a Forum or Archive List of Forums: Biotechnical requests and sources DIAGnostics - Clinical Research (professional requests) Ethical, legal and social implications Open Topic Forum List of Archives: Genetic News Contact Us HUM-MOLGEN HUM-MOLGEN Powered by: Ultimate Bulletin Board, Version 5.44a By posting requests at HUM-MOLGEN you reach more than 8.000 mailing list subscribers and a 6 digit number of www users. Therefore post high quality messages only, including full name and institutional address.

23. Metachromatic Leukodystrophy And Nonverbal Learning Disability: Neuropsychologic research article. metachromatic leukodystrophy and Nonverbal Learning DisabilityNeuropsychological and Neuroradiological Findings in Heterozygous Carriers. http://www.szp.swets.nl/szp/journals/cn071054.htm

Child Neuropsychology 2001, Vol.7, No.1, pp. 54-58 research article Metachromatic Leukodystrophy and Nonverbal Learning Disability: Neuropsychological and Neuroradiological Findings in Heterozygous Carriers Anna M. Weber Byars , McKellop J. Mark , Gyato Kunsang , Sullivan Tom and N. David University of Cincinnati, Children's Hospital Medical Center, Cincinnati, USA

24. 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

25. 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

26. 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

SEARCH: The Web Yellow Pages HOME Illustrated Health Encyclopedia 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. Both the juvenile and adult forms have later onset but similar symptoms. In the adult and juvenile forms, psychosis and emotional disturbances are an important part of the illness. The juvenile form is fatal within a few years of diagnosis. The adult form may be drawn out over many years.

27. 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

SEARCH: The Web Yellow Pages HOME Illustrated Health Encyclopedia 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 bronchopneumonia 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 Home Autos Classifieds Events ... Our Sponsors By using Austin360 you accept the terms of our Visitor Agreement . Please read it. Privacy statement Registered site users: edit your profile var v=1.0; v=1.1; v=1.2;

28. 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

29. 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

Patient/Family Resources by Topic: Metabolic Disorders Metachromatic Leukodystrophy Patient/Family Resources Spanish Miscellaneous See also: Genetic Testing Patient/Family Resources General Genetic Disorders Patient/Family Resources General Metabolic Disorders Patient/Family Resources Metachromatic Leukodystrophy Clinical Resources National Institute of Neurological Disorders and Stroke: Homepage Disorders Information: List of documents Metachromatic Leukodystrophy: Access document United Leukodystrophy Foundation Access document Metachromatic Leukodystrophy: Access document MEDLINE plus Medical Encyclopedia: Table of contents Metachromatic Leukodystrophy: English Spanish Spanish MEDLINE plus Medical Encyclopedia: Table of contents Metachromatic Leukodystrophy: English Spanish Miscellaneous Metachromatic Leukodystrophy Patient/Family Resources The Family Village Library - Specific Diagnoses Card Catalog Table of contents Leukodystrophy: Access document Healthfinder (US DHHS): Homepage Genetics: List of documents National Library of Medicine MEDLINE plus Health Topics: Index Genetic Testing/Counseling: List of documents Genetic Disorders: List of documents YAHOO - Health:Diseases and Conditions:Metabolic Diseases Additional Metabolic Diseases resources ( These sites have not been reviewed.

30. 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

Clinical Resources by Topic: Metabolic Disorders Metachromatic Leukodystrophy Clinical Resources Pediatrics Radiology Pathology Genetics ... Miscellaneous Resources See also: Genetic Testing Clinical Resources General Genetic Disorders Clinical Resources General Metabolic Disorders Clinical Resources Metachromatic Leukodystrophy Patient/Family Resources Harrison's Principles of Internal Medicine 15th Ed.-2001: Table of contents Medical Library subscription INFO Chapter 349: Lysosomal Storage Diseases: Table of contents General Features: Access document Physiology of Lysosomes: Access document Pathogenesis of Lysosomal Storage Diseases: Access document Specific Disorders: Access document The Leukodystrophies: Access document Hoffman: Hematology: Basic Principles and Practice 3rd Ed.-2000 (MD Consult): Table of contents Medical Library subscription INFO Chapter 44 - Lysosomal Storage Diseases: Perspective and Principles: Access document The Concept of the Lysosome: Access document Physiology of Lysosomes: Access document Pathophysiology of Lysosomal Storage Diseases: Access document Molecular Genetic Mechanisms of Lysosomal Storage Diseases: Access document Genotype/Phenotype Correlations: Access document Therapeutic Approaches and Implications: Access document Results and Lessons from Therapy: Access document Diagnosis of Lysosomal Storage Diseases: Access document Goetz: Textbook of Clinical Neurology 1st Ed.-1999 (MD Consult):

31. 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

32. 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

Metachromatic leukodystrophy from the Metachromic leukodystrophy foundation website: http://www.MLDfoundation.org AN OVERVIEW OF MLD MLD stands for metachromatic leukodystrophy. Translated from doctor talk and applied to MLD that means: leuko - white matter dystrophy - degeneration meta - change chromatic - color. MLD's name therefore comes from degeneration in the white matter of the brain and Central Nervous System (CNS) which has a color on staining that should not be there. first published reports of MLD appeared in the early 1960' with the first attempted experimental treatments in the early 1980's being bone marrow transplants*. 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 membranes myelin sheath, the "insulator" around the body's nerves, resulting in permanent damage to the nerves*.

33. 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

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"

34. 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

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"

35. 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

Clinical Resources by Topic: Metabolic Disorders Metachromatic Leukodystrophy Clinical Resources Pediatrics Radiology Pathology Genetics ... Miscellaneous Resources See also: Genetic Testing Clinical Resources General Genetic Disorders Clinical Resources General Metabolic Disorders Clinical Resources Metachromatic Leukodystrophy Patient/Family Resources Harrison's Principles of Internal Medicine 15th Ed.-2001: Table of contents Health Sciences Library subscription INFO Chapter 349: Lysosomal Storage Diseases: Table of contents General Features: Access document Physiology of Lysosomes: Access document Pathogenesis of Lysosomal Storage Diseases: Access document Specific Disorders: Access document The Leukodystrophies: Access document Hoffman: Hematology: Basic Principles and Practice 3rd Ed.-2000 (MD Consult): Table of contents Health Sciences Library subscription INFO Chapter 44 - Lysosomal Storage Diseases: Perspective and Principles: Access document The Concept of the Lysosome: Access document Physiology of Lysosomes: Access document Pathophysiology of Lysosomal Storage Diseases: Access document Molecular Genetic Mechanisms of Lysosomal Storage Diseases: Access document Genotype/Phenotype Correlations: Access document Therapeutic Approaches and Implications: Access document Results and Lessons from Therapy: Access document Diagnosis of Lysosomal Storage Diseases: Access document Goetz: Textbook of Clinical Neurology 1st Ed.-1999 (MD Consult):

36. 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

a) Parametri Genetici delle Neuropatie Sensomotorie Ereditarie (HMSN) vi) LEUCODISTROFIA METACROMATICA (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: 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

37. 1Up Health > Metachromatic Leukodystrophy > Causes, Incidence, And Risk Factors Comprehesive information on metachromatic leukodystrophy (Arylsulfatase A deficiency,MLD). metachromatic leukodystrophy Causes, Incidence, and Risk Factors. http://www.1uphealth.com/health/metachromatic_leukodystrophy_info.html

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. 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. Both the juvenile and adult forms have later onset but similar symptoms. In the adult and juvenile forms

38. 1Up Health > Metachromatic Leukodystrophy (Arylsulfatase A Deficiency, MLD) Info Comprehesive information on metachromatic leukodystrophy (Arylsulfatase A deficiency,MLD). 1Up Health Diseases Conditions metachromatic leukodystrophy. http://www.1uphealth.com/health/metachromatic_leukodystrophy.html

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. Jump to a Section of this Guide Definition Causes, Incidence, and Risk Factors Symptoms Prevention ... Calling your Health Care Provider Related Tools and Utilities Search Books on Amazon: Read Articles on eLibrary: Health Products on drugstore.com: Optic nerve atrophy Psychosis More CSF collection ... More More Topics Autosomal recessive Blindness Consciousness - decreased Enzyme ... More Search 1Up Health 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). Home Contact Us Privacy Links Directory

39. 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

40. 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

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