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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

Metachromatic Leukodystrophy - Type II (Juvenile Form)
metachromatic leukodystrophy type II. Select Another Disease One of a group of genetic disorders called the leukodystrophies that affect the growth of
http://www.lysosomallearning.com/healthcare/about/lsd_hc_abt_leukodystrophy2.asp

Extractions: Genzyme Corporate Search Contact Us Genzyme Websites Lyso Learning All Genzyme sites About Lysosomal Storage Disorders Disease Classification Disease Management var pageTitle="Metachromatic Leukodystrophy - Type II (Juvenile Form)"; var teaserText = "One of a group of genetic disorders called the leukodystrophies that affect the growth of the myelin sheath, the fatty covering on nerve fibers in the brain that acts as an insulator."; Metachromatic Leukodystrophy - Type II (Juvenile Form) Select Another Disease Select disease Acid sphingomyel. def. Aspartylglycosaminuria Cystinosis Fabry disease Farber disease Fucosidosis type I Fucosidosis type II Galactosialidosis Gaucher type I Gaucher type II Gaucher type III GM1 gangliosidosis I GM1 gangliosidosis II GM1 gangliosidosis III Infantile sialic acid Krabbé disease Mannosidosis Metachr. leukodys. I
Metachromatic Leukodystrophy - Type I (Late Infantile Form)
metachromatic leukodystrophy type I. Select Another Disease One of a group of genetic disorders called the leukodystrophies that affect the growth of
http://www.lysosomallearning.com/healthcare/about/lsd_hc_abt_leukodystrophy1.asp

Extractions: Genzyme Corporate Search Contact Us Genzyme Websites Lyso Learning All Genzyme sites About Lysosomal Storage Disorders Disease Classification Disease Management var pageTitle="Metachromatic Leukodystrophy - Type I (Late Infantile Form)"; var teaserText = "One of a group of genetic disorders called the leukodystrophies that affect the growth of the myelin sheath, the fatty covering on nerve fibers in the brain that acts as an insulator."; Metachromatic Leukodystrophy - Type I (Late Infantile Form) Select Another Disease Select disease Acid sphingomyel. def. Aspartylglycosaminuria Cystinosis Fabry disease Farber disease Fucosidosis type I Fucosidosis type II Galactosialidosis Gaucher type I Gaucher type II Gaucher type III GM1 gangliosidosis I GM1 gangliosidosis II GM1 gangliosidosis III Infantile sialic acid Krabbé disease Mannosidosis Metachr. leukodys. I
Show-documents.asp
metachromatic leukodystrophy Written Information. Care Treatment. Metachromatic Leukodystropy New Search Contact Us Disclaimer Send this link
http://www.clevelandclinic.org/health/search/do-query.asp?TopicId=1326
Show-documents.asp
metachromatic leukodystrophy Written Information. Care Treatment. , Metachromatic Leukodystropy New Search Health Extra Menu.
http://www.clevelandclinic.org/healthextra/do-query.asp?TopicId=1326
Metachromatic Leukodystrophy
There are three distinct forms of metachromatic leukodystrophy (late infantile, Absence of an enzyme is responsible for metachromatic leukodystrophy.
http://tjsamson.client.web-health.com/web-health/topics/GeneralHealth/generalhea

Extractions: 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
Metachromatic Leukodystrophy - Definition From Biology-Online.org
Definition and other additional information on metachromatic leukodystrophy from BiologyOnline.org dictionary.
http://www.biology-online.org/dictionary/metachromatic_leukodystrophy
Metachromatic Leukodystrophy - Washington DC
metachromatic leukodystrophy Washington Hospital Center is located in Washington DC.
http://www.whcenter.org/15170.cfm

Extractions: Home Back to Health Library Print This Page ... Email to a Friend 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). The most common and most severe form is the late infant onset form, which has symptoms such as
Arch Ophthalmol -- Abstract: Ocular Findings In Metachromatic Leukodystrophy. An
Ocular findings in metachromatic leukodystrophy. An electron microscopic and enzyme study in different clinical and genetic variants
http://archopht.ama-assn.org/cgi/content/abstract/97/8/1495

Extractions: Vol. 97 No. 8, August 1979 Featured Link E-mail Alerts ARTICLE Article Options 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 Libert J Green WR Contact me when this article is cited J. Libert, F. Van Hoof, D. Toussaint, H. Roozitalab, K. R. Kenyon and W. R. Green
BrainTalk Communities - Metachromatic Leukodystrophy
Online patient support groups for healthcare and neurology.
http://brain.hastypastry.net/forums/archive/index.php/t-20026.html

Extractions: Sherri jtwogood 06-26-2004, 01:21 PM I'm not that that familiar with the childhood versions of this disease but I have the adult form - AMN adrenomyeloneuopathy or ALD adrenoleukodystrophy. I do know that the Kennedy Kreiger Institute http://www.kennedykrieger.org/ is one of the leading research locations for this disease in Baltimore, MD. It's part or related to John Hopkins. I went there when they were testing Lorenzo's Oil on aldults. Later I was told it wasn't effective for aldults but worked well for children and those that hadn't shown symptoms. I would contact them. The ULF is another place to look for information. If I can help any further please feel free to email me. Good luck and God Bless.
IngentaConnect Gene Therapy Of Metachromatic Leukodystrophy
metachromatic leukodystrophy (MLD) is a lysosomal storage disease that is caused by a deficiency of arylsulfatase A (ASA). The deficiency results in the
http://www.ingentaconnect.com/content/apl/ebt/2005/00000005/00000001/art00005

Extractions: For Researchers For Librarians Authors: Ulrich Matzner; Volkmar Gieselmann Source: Expert Opinion on Biological Therapy , Volume 5, Number 1, 1 January 2005, pp. 55-65(11) Publisher: Ashley Publications View Table of Contents full text options Abstract: Keywords: arylsulfatase A gene therapy lysosomal storage disease mannose 6-phosphate ... metachromatic leukodystrophy Document Type: Review article DOI: The full text article is available for purchase $75.00 plus tax The exact price (including tax) will be displayed in your shopping cart before you check out. You will be able to remove this item from your shopping cart at any time before you have completed check-out. View Table of Contents Back to top Terms and Conditions Page Help Quick Search
IngentaConnect Metachromatic Leukodystrophy: Consequences Of Sulphatide Accumula
metachromatic leukodystrophy is a lysosomal lipid storage disorder. Conclusion The knockout mouse model of metachromatic leukodystrophy has provided
http://www.ingentaconnect.com/content/tandf/spae/2003/00000092/A443s443/art00015

Extractions: For Researchers For Librarians Authors: V Gieselmann ; S Franken ; D Klein ; JE Mansson ; R Sandhoff ; D Hartmann ; VPM Saravanan ; PP De Deyn ; AM Van Der Linden ; N Schaeren-Wiemers Source: Acta Paediatrica , Volume 92, Supplement 443, Supplement 443/December 2003, pp. 74-79(6) Publisher: Taylor and Francis Ltd View Table of Contents full text options Free trial available! Abstract: Metachromatic leukodystrophy is a lysosomal lipid storage disorder. It is caused by mutations in the gene for arylsulphatase A, an enzyme involved in the degradation of the sphingolipid 3 -O-sulphogalactosylceramide (sulphatide). This membrane lipid can be found in various cell types, but in particularly high concentrations in the myelin of the nervous system. Patients suffer from progressive, finally lethal, demyelination due to accumulation of sulphatide. In the nervous system, lipid storage not only affects oligodendrocytes but also neurons and, in addition, leads to astrogliosis and activation of microglia. At the cellular level, lysosomal sulphatide storage also affects the lipid composition of myelin itself and has consequences for the amount and localization of particular myelin membrane-associated proteins. Here we review data, largely based on an arylsulphatase A knock-out mouse model of metachromatic leukodystrophy.
Edcenter.med.cornell.edu/CUMC_PathNotes/Neuropatho
metachromatic leukodystrophyComplete online version of The Encyclopaedia of Medical Imaging including text and images from The Encyclopaedia of Medical Imaging s eight book volumes
http://edcenter.med.cornell.edu/CUMC_PathNotes/Neuropathology/Neuropath_II/metab

Extractions: Lack of blood supply and/or lack of adequate oxygen delivery causes hypoxic damage to the nervous system: for example, post cardiac-arrest encephalopathy. The brain has a high metabolic demand reflected in the large proportion of cardiac output which it receives. Thus mild decreases in cerebral blood flow or oxygenation can cause changes in brain function. If the patient survives, there will be demyelination of white matter in the centrum semiovale after several days have passed. Thus the patient may awaken feeling fine and develop neurologic symptoms days later ("postanoxic delayed demyelination"). This is thought to occur because oligodendrocytes suffer hypoxic injury. Because the metabolic turnover of myelin is slow, symptoms don't develop for days.
Metachromatic Leukodystrophy (Disease) - Des Moines, Iowa Health Hospital
metachromatic leukodystrophy (Disease). Definition. metachromatic leukodystrophy is an inherited disease characterized by the absence of the enzyme
http://www.iowahealth.org/13386.cfm

Extractions: Search Health Information Talk To A Nurse: My Nurse Specialized Outpatient Services Patient Education Materials ... Contact A Nurse Search Health Information August 02, 2005 Back to Search 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
ARSA
CM990171, 32, cGGCAGC, Gly-Ser, metachromatic leukodystrophy, 1. CM990172, 68, CTG-CCG, Leu-Pro, metachromatic leukodystrophy, 1
http://www.uwcm.ac.uk/uwcm/mg/ns/1/119007.html

Extractions: Number Codon Nucleotide Amino acid Phenotype Reference cGGC-AGC Gly-Ser Metachromatic leukodystrophy CTG-CCG Leu-Pro Metachromatic leukodystrophy CCG-CTG Pro-Leu Metachromatic leukodystrophy tCGG-TGG Arg-Trp Metachromatic leukodystrophy CGG-CAG Arg-Gln Metachromatic leukodystrophy GGC-GAC Gly-Asp Metachromatic leukodystrophy gCCC-GCC Pro-Ala Metachromatic leukodystrophy AGC-AAC Ser-Asn Metachromatic leukodystrophy TCC-TTC Ser-Phe Metachromatic leukodystrophy GGC-GAC Gly-Asp Metachromatic leukodystrophy GGC-GTC Gly-Val Metachromatic leukodystrophy aGGA-AGA Gly-Arg Metachromatic leukodystrophy cGGC-AGC Gly-Ser Metachromatic leukodystrophy CTG-CCG Leu-Pro Metachromatic leukodystrophy gCCC-TCC Pro-Ser Metachromatic leukodystrophy CCC-CTC Pro-Leu Metachromatic leukodystrophy tCGA-GGA Arg-Gly Metachromatic leukodystrophy CCG-CTG Pro-Leu Metachromatic leukodystrophy cGAC-TAC Asp-Tyr Metachromatic leukodystrophy CAGg-CAC Gln-His Metachromatic leukodystrophy GGC-GAC Gly-Asp Metachromatic leukodystrophy CCC-CGC Pro-Arg Metachromatic leukodystrophy CCC-CTC Pro-Leu Metachromatic leukodystrophy CCT-CGT Pro-Arg Metachromatic leukodystrophy cGAC-AAC Asp-Asn Metachromatic leukodystrophy TGT-TAT Cys-Tyr Metachromatic leukodystrophy ATC-AGC Ile-Ser Metachromatic leukodystrophy CTG-CAG Leu-Gln Metachromatic leukodystrophy CAGc-CAC Gln-His Metachromatic leukodystrophy gCCC-ACC Pro-Thr Metachromatic leukodystrophy TGGc-TGA Trp-Term Metachromatic leukodystrophy
Genetics And Major Psychiatric Disorders:A Program For Genetic Counselors
metachromatic leukodystrophy, Late Juvenile and Adult Onset. Inheritance. Autosomal recessive. Frequency. Heterozygote prevalence estimated at ~1%
http://www.nchpeg.org/cdrom/metachromatic.html

Extractions: OF THE CD Metachromatic Leukodystrophy, Late Juvenile and Adult Onset Inheritance: Autosomal recessive Frequency: Heterozygote prevalence estimated at ~1% Homozygote incidence estimated at ~1 in 40,000 in the United States Locus: ARSA gene at 22q13.31-qter (arylsulfatase A) Defining characteristics: Progressive deterioration of motor and neurocognitive function Demyelination of axons and peripheral nerves Mental deterioration Late Juvenile and Adult (6+ years of age) Decreased work or school performance, behavioral changes, memory loss, possible seizures, psychoses, gradual loss of motor skills, optic atrophy
Nradnormal.html
metachromatic leukodystrophy. Back to Other Directory Back to Neuroradiology Directory Back to Home.
http://www.uiowa.edu/~c064s01/nr287.htm
Biospace Glossary: Definitions
metachromatic leukodystrophy. Sponsored by Society for In Vitro Biology (SIVB). A genetic disorder caused by a deficiency of the enzyme arylsulfatase A.
http://www.biospace.com/gls_detail.cfm?t_id=105615
HUGO HGM2003 - Poster 173 - Evidence For Uniparental Disomy In Metachromatic Leu
metachromatic leukodystrophy (MLD) is an autosomal recessive disorder characterized by progressive degeneration of the central nervous system.
http://hgm2003.hgu.mrc.ac.uk/Abstracts/Publish/WorkshopPosters/WorkshopPoster07/

Extractions: Departamento de genetica humana, Fac. de Medicina, U.A.N.L. Lab. clinico-medicos, Dr. Moreira Centro de investigacion biomedica del noreste, Monterrey, N.L., Mexico Metachromatic leukodystrophy (MLD) is an autosomal recessive disorder characterized by progressive degeneration of the central nervous system. The disease is caused by mutations in the arylsulphatase A gene (ASA), located at 22q13.31 (OMIM 250100). The ocurrence of MLD is approximately 1:40,000. There are three clinical forms of MLD: late infantile, juvenile and adult. We describe the case of a boy died when he was 11 year old, diagnosed with the late infantile form of MLD because a clinical picture of progressive neurologic deficit since he was 9 y.o. and low levels of ASA enzimatic activity in serum and urine. Levels of ASA in the other members of the family showed decreased activity in his father and two sisters and normal activity in his mother and two brothers. The patient's parents are non-consanguineous. Biochemical findings suggest paternal disomy for a mutation in the proband and heterozygocity for the same genetic defects in his father and sisters. Uniparental disomy ocurrs in some mendelian disorders when the set of genes or chromosomes are derived exclusively from only one parent. So far, this genetic mechanism has not been describen for MLD.
[DYSPHAGIA] Metachromatic Leukodystrophy
Kelly Well, metachromatic leukodystrophy is an inherited disorder and, See ff metachromatic leukodystrophy Infantile form onset by age 2,
http://list.dysphagia.com/dysphagia/2002-January/msg00165.html

Extractions: Date Prev Date Next [Chronological] [Thread] ... [Top] http://promo.yahoo.com/videomail/ - To UNSUBSCRIBE from this list, please send an e-mail message to majordomo@medonline.com with the following text as a message: unsubscribe dysphagia - References [DYSPHAGIA] Metachromatic Leukodystrophy From: Kelly_Moore@shepherd.org (Kelly Moore) Prev by Date: [DYSPHAGIA] Metachromatic Leukodystrophy Next by Date: [DYSPHAGIA] OI and swallowing Index(es): Chronological Thread
[DYSPHAGIA] Metachromatic Leukodystrophy
Subject DYSPHAGIA metachromatic leukodystrophy; From ROBERT_VOLIN@NYMC.EDU (VOLIN ROBERT); Date Fri, 25 Jan 2002 111742 0500
http://list.dysphagia.com/dysphagia/2002-January/msg00278.html

Extractions: Date Prev Date Next [Chronological] [Thread] ... [Top] see the following for brief information about metachromatic leukodystrophy. If your patient has this diagnosis, his problems have little to do with the MVA of 1966. http://www.ninds.nih.gov/health_and_medical/disorders/meta_leu_doc.htm Prev by Date: [DYSPHAGIA] NPO Next by Date: [DYSPHAGIA] metabolic myopathy Index(es): Chronological Thread

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