61. 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

var factSheetURL = document.location; We have detected that your browser does not have Javascript turned on. This site is optimized for Javascript. You may experience difficulties browsing certain parts of the site. 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) Metabolic defect: arylsulfatase A (ASA) deficiency Other sphingolipid degradation diseases: acid sphingomyelinase deficiency Fabry Farber type I ... type III Current page: Metachromatic Leukodystrophy - type II 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

62. 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

var factSheetURL = document.location; We have detected that your browser does not have Javascript turned on. This site is optimized for Javascript. You may experience difficulties browsing certain parts of the site. 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) Metabolic defect: arylsulfatase A (ASA) deficiency Other sphingolipid degradation diseases: acid sphingomyelinase deficiency Fabry Farber type I ... type III Current page: Metachromatic leukodystrophy - type I 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

63. 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

64. 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

65. 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

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: The baby starts off normal, but then loses skills starting at six months to two years of age. Symptoms are: Trouble Swallowing, Slurring, Vision Loss Nystagmus Low Muscle Tone, Loss of the Ability to Walk Spasms or Convulsions , with Blindness and Rigidity or Partial Paralysis developing. 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

66. 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

67. Metachromatic Leukodystrophy - Washington DC metachromatic leukodystrophy Washington Hospital Center is located in Washington DC. http://www.whcenter.org/15170.cfm

cddcodebase = "navtools/topmenu/";cddcodebase367050 = "navtools/topmenu/"; Article Manager Home Back to Health Library Print This Page ... Email to a Friend 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, 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

68. 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

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. 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 Ocular findings in metachromatic leukodystrophy. An electron microscopic and enzyme study in different clinical and genetic variants J. Libert, F. Van Hoof, D. Toussaint, H. Roozitalab, K. R. Kenyon and W. R. Green Histopathological studies of the eyes from three patients affected with the infantile form of metachromatic leukodystrophy (MLD) showed the storage of metachromatic complex lipids in the retinal ganglion cells, in the optic nerve and the ciliary nerves, as well as the storage of a

69. BrainTalk Communities - Metachromatic Leukodystrophy Online patient support groups for healthcare and neurology. http://brain.hastypastry.net/forums/archive/index.php/t-20026.html

BrainTalk Communities Specific Neurological Conditions (A - L) Leukodystrophy PDA View Full Version : metachromatic leukodystrophy sherri(MLD)Mom 06-06-2004, 08:12 PM Thanks Sherri asil 06-09-2004, 02:56 AM Sherrie I am so very sorry to hear about your son... I would be more than happy to share with you my experience. I lost my daughter to another form of LD called CACH LD 3 yrs ago in July.. my email is asil3434@hotmail.com Love and Prayers Lisa Thanks 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. Joe.

70. 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

Home About Ingenta Ingenta Labs Help For Publishers Why go online? Why choose IngentaConnect? Why choose CustomConnect? Access and authentication ... Contact us For Researchers About IngentaConnect Search and browse Publications available Accessing articles ... Register For Librarians Why choose IngentaConnect? Why choose IngentaConnect Premium? Activating Subscriptions Purchasing articles ... Browse Publications Gene therapy of metachromatic leukodystrophy 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 Electronic content Fax/Ariel content Journal or book title Sign in: User name Password Remember me forgotten your password?

71. 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

Home About Ingenta Ingenta Labs Help For Publishers Why go online? Why choose IngentaConnect? Why choose CustomConnect? Access and authentication ... Contact us For Researchers About IngentaConnect Search and browse Publications available Accessing articles ... Register For Librarians Why choose IngentaConnect? Why choose IngentaConnect Premium? Activating Subscriptions Purchasing articles ... Browse Publications Metachromatic leukodystrophy: consequences of sulphatide accumulation 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.

72. 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

METABOLIC AND DEFICIENCY DISORDERS OF THE CNS METABOLIC DISEASES Anoxia and Ischemia 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. Causes 1. Stagnant or decreased blood flow Occurs in hypotensive crises (shock) and post cardiac-arrest. Moderate decreases in blood flow will first affect the watershed areas between adjacent arterial supplies. 2. Hypoxia Decreased oxygen tension in the blood, as in ARDS. Sommer's sector is especially sensitive to hyoxic injury. 3.Anemia (as in CO poisoning) Morphology of CO poisoning: 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. 4. Histotoxic

73. 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

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 Metachromatic leukodystrophy (Disease) 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

74. 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

ARSA Nucleotide substitutions (missense / nonsense) Accession 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

75. 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

COUNSELING AIDS GENETIC DISORDERS Velocardiofacial Disorder Homocystinuria Metachromatic Leukodystrophy Inheritance Frequency Locus Defining Characteristics Natural History Psychiatric Characteristics References Copropoporphyria Acute Intermittent Prophyria Wolfram Syndrome Fragile X Syndrome RESEARCH UPDATES RESOURCE LINKS SELF TEST ON CDROM CONTACT US ... 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

76. Nradnormal.html metachromatic leukodystrophy. Back to Other Directory Back to Neuroradiology Directory Back to Home. http://www.uiowa.edu/~c064s01/nr287.htm

Metachromatic Leukodystrophy Back to Other Directory Back to Neuroradiology Directory Back to Home

77. 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

78. 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/

HGM2003 Poster Abstracts 7. Disease Mechanisms Poster 173 Evidence for uniparental disomy in metachromatic leukodystrophy Beatriz E. De la fuente-Cortez Carolina Mendez-Ramirez, Tomas Castillo-S., Mercedes Alvarez-L. 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.

79. [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

Date Prev Date Next [Chronological] [Thread] ... [Top] [DYSPHAGIA] Metachromatic Leukodystrophy Subject [DYSPHAGIA] Metachromatic Leukodystrophy From eripley@yahoo.com (Irene Campbell-Taylor) Date: Fri, 18 Jan 2002 14:17:24 -0800 (PST) OFC196C565.7150787B-ON85256B45.006A6C71@shepherd.org 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

80. [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

Date Prev Date Next [Chronological] [Thread] ... [Top] [DYSPHAGIA] Metachromatic Leukodystrophy Subject [DYSPHAGIA] Metachromatic Leukodystrophy From ROBERT_VOLIN@NYMC.EDU (VOLIN ROBERT) Date: Fri, 25 Jan 2002 11:17:42 -0500 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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