81. Metachromatic Leukodystrophy metachromatic leukodystrophy. Used for. arylsulfatase A deficiency. Used for. metachromatic leukoencephalopathy. Used for. metachromatic leukoencephaly http://crisp.cit.nih.gov/Thesaurus/00004995.htm

Prev Term: metabolomics Next Term: metachromatic leukoencephalopathy metachromatic leukodystrophy Used for: arylsulfatase A deficiency Used for: metachromatic leukoencephalopathy Used for: metachromatic leukoencephaly Used for: sulfatide lipoidosis Broader Terms: enzyme deficiency Broader Terms: inborn lysosomal enzyme disorder Broader Terms: leukodystrophy Related Terms: autosomal recessive trait Scope Note: autosomal recessive lysosomal storage disease caused by a deficiency of cerebroside sulfatase leading to an accumulation of cerebroside sulfate in the nervous system and other organs. Term Number: Send your comments to: Melody Lowe

82. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Neurological_Disor MLD Foundation Support for Families With metachromatic leukodystrophy - Information, NINDS - metachromatic leukodystrophy - A short information sheet http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Neurologica

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Leukodystrophy : Metachromatic Leukodystrophy Subtopics Search Google: Metachromatic Leukodystrophy News Books Links ... Infants With Rare Genetic Disease Saved By Cord Blood Stem Cells (May 27, 2005) full story Brain Cell Transplants Potential Treatment For Multiple Sclerosis (November 1, 1999) full story (October 29, 1998) full story [ More news about Metachromatic Leukodystrophy Error: We did not find any matches for your request. [ More books about Metachromatic Leukodystrophy 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 - Raising public awareness regarding Metachromatic Leukodystrophy, and raising funds for MLD research. Bethanys Hope Foundation - For MLD Research - A Canadian foundation funding research and serving families dealing with Metachromatic Leukodystrophy disease (MLD) and other leukodystrophies.

83. Abnormal Lipopigments And Lysosomal Residual Bodies In Metachromatic Leukodystro Ultrastructurally, metachromatic leukodystrophy (MLD) is marked by characteristic features such as herringbone, prismatic and tufaceous patterns which are http://www.arclab.org/medlineupdates/abstract_2486156.html

Aging Research Center Home Page All Previous Aging Related Articles On-line Medical Dictionary National Library of Medicine's PubMed directory of MEDLINE citations. Abnormal lipopigments and lysosomal residual bodies in metachromatic leukodystrophy. - Goebel HH, Busch H Adv Exp Med Biol 1989;266:299-309. Ultrastructurally, metachromatic leukodystrophy (MLD) is marked by characteristic features such as herringbone, prismatic and tufaceous patterns which are typically encountered within oligodendrocytes of the central nervous system (CNS) and in Schwann cells (PNS). These patterns can be documented in late infantile, juvenile, and adult forms. In the latter, aging of the ailing individual adds another component, the accumulation of lipopigments which are marked by an opaque supposedly lipid droplet and a granular component. While MLD-specific lysosomal residual bodies occur in myelinforming cells, lipopigments accrue in neurons and to a lesser degree in astrocytes. MLD represents a unique example in which these two separate lysosomal storage processes combine to form a wide spectrum of ultrastructurally divergent MLD-lipopigments affecting several cell type in the CNS and PNS. Lipopigments and MLD-specific lysosomal inclusions also assemble in

84. Resource Library Find Information On Metachromatic Leukodystrophy Find information on metachromatic leukodystrophy at MerckSource. Learn more about metachromatic leukodystrophy, metachromatic leukodystrophy (MLD) is a http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns

85. Short Description Of Cell Lines. Pathology: Metachromatic Leukodystrophy #249900 Pathology metachromatic leukodystrophy 249900 OMIM record. By selecting the cell line name, you will receive the detailed description of the cell line http://www.biotech.ist.unige.it/cldb/pat214.html

Version Short description of cell lines. Pathology: metachromatic leukodystrophy OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser human, Caucasian skin, fibroblast GEIMM IMG-1112 ... By Beatrice...

86. Short Description Of Cell Lines. Pathology: Metachromatic Leukodystrophy, Late-i Pathology metachromatic leukodystrophy, lateinfantile *250100 OMIM record. - By selecting the cell line name, you will receive the detailed description of http://www.biotech.ist.unige.it/cldb/pat131.html

Version Short description of cell lines. Pathology: metachromatic leukodystrophy, late-infantile OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser human, Caucasian amnion GEIMM human, Caucasian ... By Beatrice...

87. CCHS Clinical Digital Library metachromatic leukodystrophy Access document. United Leukodystrophy FoundationAccess document. metachromatic leukodystrophy Access document http://cchs-dl.slis.ua.edu/patientinfo/metabolism/inborn/lysosomalstorage/sphing

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 MedlinePlus Medical Encyclopedia: Table of contents Metachromatic Leukodystrophy: English Spanish Spanish MedlinePlus 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 MedlinePlus (National Library of Medicine) Health Topics: Index Genetic Testing: List of documents Prenatal Testing: List of documents Genetic Counseling: List of documents Genetic Disorders: List of documents Birth Defects: List of documents YAHOO - Health:Diseases and Conditions:Metabolic Diseases Additional Metabolic Diseases resources ( These sites have not been reviewed.

88. CCHS Clinical Digital Library Chapter 192 metachromatic leukodystrophy Access document metachromatic leukodystrophy (Keyword search) List of documents; Metabolism, Inborn Errors 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 Hoffman: Hematology: Basic Principles and Practice 4th Ed.-2005 (MD Consult): Table of contents Health Sciences Library subscription INFO Part V - Host Defense and its Disorders: Access document Chapter 49 - Lysosomal Storage Diseases: Perspectives 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 References: Access document Part VII - Transplantation: Access document Chapter 94 - Hematopoietic Stem Cell Transplantation for Immunodeficiencies and Genetic Diseases: Access document Introduction: Access document Leukodystrophies: Access document Future Directions: Access document References: Access document Goetz: Textbook of Clinical Neurology 2nd Ed.-2003 (MD Consult):

89. Disease - Metachromatic Leukodystrophy - Detroit, Michigan Disease metachromatic leukodystrophy - courtesy of Henry Ford Health System of Detroit, Michigan. http://www.henryfordhealth.org/12229.cfm

3D Tour of the Vattikuti Institute About the Institute The Vattikuti Institute Prostatectomy Prostate Cancer ... Health Encyclopedia Health Encyclopedia Back to main Health Information page Disease - Metachromatic leukodystrophy 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. Alternative Names: MLD; Arylsulfatase A deficiency Causes And Risk: 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). The most common and most severe form is the late infant onset form, which has symptoms such as

90. Metachromatic Leukodystrophy metachromatic leukodystrophy is an inherited disease characterized by the absence of the enzyme arylsulfatase A, which causes a material called cerebroside http://www.pennhealth.com/ency/article/001205.htm

Appointments Medical Services Health Information Find a Doctor Search: Search Encyclopedia: List of Topics Print This Page  Endocrinology, Pediatrics Metachromatic leukodystrophy Definition: Metachromatic leukodystrophy (MLD) is a genetic disorder that affects nerves, muscles, and other organs. It gets progressively worse over time. MLD is usually caused by the lack of an important enzyme called arylsulfatase A. Because this enzyme is missing, chemicals called sulfatides accumulate in the nervous system, kidneys, gallbladder, and other organs. The sulfatides damage the nerves and organs where buildup occurs. In particular, it damages the myelin sheaths that surround nerve cells. There are three forms, based on when the symptoms begin: Late infantile symptoms usually begin by age 4. The symptoms include problems walking, loss of muscle control, and loss of mental functions. Juvenile symptoms begin between 4 and 6 years old. The child has trouble walking and loses developmental milestones. The first sign may be deteriorating school performance. Adult the late juvenile (age 6-16 age) and adult (over age 16) forms progress slowly. Early signs may be behavior problems, loss of mental functions, poor school or work performance, seizures, and loss of muscle control.

91. ESynopsis Of Metachromatic Leukodystrophy Of The Brain eSynopsis of metachromatic leukodystrophy of Brain From the Electonic Synopsis of Pathology, the University of Connecticut School of Medicine, Department of http://esynopsis.uchc.edu/S460.htm

Prev CNS Menu PathWeb Home Feed Back ... Next Metachromatic leukodystrophy Etiology An autosomally recessively inherited white matter dysmyelination due to absence or decrease of of the enzyme Arylsulphatase A. Pathogenesis The lack of arylsulfatase A, a lysosomal enzyme, causes build up of cerebroside sulfatides which be produce demyelination although the exact mechanism is not known., Epidemiology The disease is seen in infants, juveniles and adults. It is quite rare. General Gross Description The white matter of the cerebral and cerebellar hemispheres has a chalky white to greyish appearance which is firm in texture. General Microscopic Description Microscopically there is loss of myelin and collections of cerebroside sulfatides inside and outside of macrophages. The sulfatides stain with PAS and metachromatically brown with acid cresyl violet. Metachromasia means staining a different color than expected - that is, acid cresyl violet usually stains cells violet but in this case it stains them brown. Proliferation of reactive astrocytes is also seen. Clinical Correlation Clinically the patients behave normally up to a certain point and then develop psychological and neurological deficits after which they go progressively down hill and often die of intercurrent infections.

92. Leukodystrophy metachromatic leukodystrophy (MLD) Infomration from the Duke University for Patients and their families. United Leukodystrophy Foundation http://www.ability.org.uk/Leukodystrophy.html

Our Aims Services Stats ... Z Leukodystrophy Alexander disease mini information sheet - From the National Institutes of Health (USA) The Amn-Ald Community Pages - Support site for families dealing with the diseases Leukodystrophies). Canavan Foundation Canavan Research Fund - The Canavan Research Fund is a not-for-profit organization dedicated to pioneering research Cockayne Syndrome treatment, prevention and much more DrKoop.com - Adrenoleukodystrophy Leukodystrophy - CHORUS document on the different types of Leukodystrophy. A little technical. Metachromatic Leukodystrophy (MLD) - Infomration from the Duke University for Patients and their families. United Leukodystrophy Foundation Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

93. Leukodystrophy NINDS metachromatic leukodystrophy Information Page Metachromatic metachromatic leukodystrophy - metachromatic leukodystrophy is a genetic disorder http://www.health-nexus.com/leukodystrophy1.htm

The #1 Health information site Health-Nexus.Net Health-Nexus.Org Home ... Up Search Health-Nexus for: Match ALL words Match ANY word Email this page to a friend ! Post a question or comment on our Message Board Home Page Health Specialties Health News ... Alternative Health Options Substance Abuse Animal Health Search: Books Magazines Video Keywords: Find it Here Leukodystrophy The Family Village / Library / Leukodystrophy - Types of Leukodystophy: Adrenoleukodystrophy, Alexander Disease, Canavan Disease, Krabbes Disease, Metachromatic Leukodystrophy, and Refsum's Disease. United Leukodystrophy Foundation - UNITED LEUKODYSTROPHY FOUNDATION 2304 Highland Drive * Sycamore, Illinois USA 60178 * Phone: (800) 728-5483 * FAX: (815) 895-2432 The United Leukodystrophy Foundation (ULF), incorporated in 1982, is a nonprofit, voluntary health organization. Leukodystrophy - CHORUS document on the different types of Leukodystrophy. Metachromatic Leukodystrophy (MLD) - The Metachromatic Leukodystrophy (MLD) Page.

94. BirdFoundation - In Gondola Per Pietro Ghezzo metachromatic leukodystrophy (LDM). The Association Rare Diseases The disease, metachromatic leukodystrophy is a severe neurological disorder affecting http://www.birdfoundation.org/leucodistrofia_eng.asp

Foundation B.I.R.D. Europe onlus Metachromatic Leukodystrophy (LDM) The Association Rare Diseases pioneer in the individuation of a cure for this severe genetic disease 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.

95. Metachromatic Leukodystrophy: Arylsulfatase-A Deficiency In Skin Fibroblast Cult metachromatic leukodystrophy ArylsulfataseA Deficiency in Skin Fibroblast Cultures. Myna T. Porter, Arvan L. Fluharty, and Hayato Kihara http://www.pnas.org/cgi/content/abstract/62/3/887

This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted ... Citation Map Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to My File Cabinet ... Cited by other online articles PubMed PubMed Citation Articles by Porter, M. T. Articles by Kihara, H. March 15, 1969 Metachromatic Leukodystrophy: Arylsulfatase-A Deficiency in Skin Fibroblast Cultures Myna T. Porter, Arvan L. Fluharty, and Hayato Kihara This article has been cited by other articles in HighWire Press -hosted journals: C. Heine, B. Koch, S. Storch, A. Kohlschutter, D. N. Palmer, and T. Braulke Defective Endoplasmic Reticulum-resident Membrane Protein CLN6 Affects Lysosomal Degradation of Endocytosed Arylsulfatase A J. Biol. Chem., May 21, 2004; 279(21): 22347 - 22352. [Abstract] [Full Text] [PDF] A. Umeda, H. Fujita, T. Kuronita, K. Hirosako, M. Himeno, and Y. Tanaka Distribution and trafficking of MPR300 is normal in cells with cholesterol accumulated in late endocytic compartments: evidence for early endosome-to-TGN trafficking of MPR300 J. Lipid Res., October 1, 2003; 44(10): 1821 - 1832.

96. Juvenile And Adult Metachromatic Leukodystrophy: Partial Restoration Of Arylsulf Juvenile and Adult metachromatic leukodystrophy Partial Restoration of Arylsulfatase A (Cerebroside Sulfatase) Activity by Inhibitors of Thiol Proteinases http://www.pnas.org/cgi/content/abstract/80/19/6066

This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to My File Cabinet ... Cited by other online articles PubMed PubMed Citation Articles by Figura, K. V. Articles by Hasilik, A. October 1, 1983 Juvenile and Adult Metachromatic Leukodystrophy: Partial Restoration of Arylsulfatase A (Cerebroside Sulfatase) Activity by Inhibitors of Thiol Proteinases Kurt Von Figura, Friedhelm Steckel, and Andrej Hasilik Arylsulfatase A polypeptides were examined in cultured fibroblasts from a patient with juvenile metachromatic leukodystrophy and three patients with the adult form of the disease, with the aid of metabolic labeling and immunoprecipitation. The mutant cells were severely deficient in the arylsulfatase polypeptides. The apparent rate of synthesis, however, as estimated from the secretion of polypeptides or activity by cells incubated in the presence of 10 mM NH Cl was 20-50% of control. In the absence of NH

97. Arch Neurol -- Abstract: Adult Onset Metachromatic Leukodystrophy Without Electr 2005;62309313. Background metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by the deficiency of arylsulfatase A (ARSA). http://archneur.ama-assn.org/cgi/content/abstract/62/2/309

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 62 No. 2, February 2005 Featured Link E-mail Alerts Observation Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Marcao AM Gieselmann V Contact me when this article is cited Topic Collections Genetic Counseling/ Testing/ Therapy Neurogenetics Topic Collection Alerts Adult Onset Metachromatic Leukodystrophy Without Electroclinical Peripheral Nervous System Involvement A New Mutation in the ARSA Gene Roland Wiest, MD Kaspar Schindler, MD, PhD Ulrich Wiesmann, MD Joachim Weis, MD Gerhard Schroth, MD Maria Clara S. Miranda, PhD Matthias Sturzenegger, MD Volkmar Gieselmann, MD Arch Neurol. Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by the deficiency of arylsulfatase A (ARSA). Clinically, the disease is heterogeneous with respect

98. Late Juvenile Metachromatic Leukodystrophy Treated With Bone Marrow Transplantat We treated a 28year-old woman who had metachromatic leukodystrophy with bone marrow transplantation. Leukocyte arylsulfatase A levels increased to the http://www.neurology.org/cgi/content/abstract/46/1/254

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Navarro, C. Articles by Alvarez, M. ARTICLES Late juvenile metachromatic leukodystrophy treated with bone marrow transplantation; a 4-year follow-up study C Navarro, JM Fernandez, C Dominguez, C Fachal and M Alvarez Department of Pathology and Neuropathology, Hospital do Meixoeiro, Vigo, Spain. We treated a 28-year-old woman who had metachromatic leukodystrophy with bone marrow transplantation. Leukocyte arylsulfatase A levels increased to the donor's range after successful graft. Motor and sensory nerve conduction values did not change significantly in the 4 years after the transplant, and subcortical white matter lesions, as shown on MRI, remained

99. Adult Metachromatic Leukodystrophy: Disorganized Schizophrenia–like Symp metachromatic leukodystrophy is one of the most serious genetic demyelination disorders.1 It Clinical symptoms of adult metachromatic leukodystrophy and http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=543838

100. Scholz-Bielschowsky-Henneberg Disease (www.whonamedit.com) ScholzBielschowsky-Henneberg disease metachromatic leukodystrophy. metachromatic leukodystrophy. A collective term for a possibly rather heterogeneous http://www.whonamedit.com/synd.cfm/1710.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related Scholz-Bielschowsky-Henneberg disease Also known as: Greenfield’s syndrome Henneberg’s disease Scholtz’ disease Scholz-Bielschowsky-Henneberg syndrome Scholz-Greenfield syndrome van Bogaert-Nyssen syndrome van Bogaert-Nyssen-Pfeiffer syndrome Synonyms: Arylsulfatase A, familial progressive cerebral sclerosis, cerebroside sulfatase deficiency syndrome, leucodystrophie métachromique infantile familiale (French), leukoencephalopathy, leukodystrophia cerebri progressiva, metachromatic leukodystrophy, metachromatica diffusa leukodystrophy, type Scholz; sulfatide lipidosis. Associated persons: Max Bielschowsky Joseph Godwin Greenfield Richard Henneberg J. E. Meyer

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