41. Avera Health - Metachromatic Leukodystrophy metachromatic leukodystrophy. Definition metachromatic leukodystrophy (MLD) is transmittedas an autosomal recessive trait. MLD has a wide range of symptoms. http://www.avera.org/adam/ency/article/001205.htm

Disease Injury Nutrition Poison ... Z Metachromatic leukodystrophy Definition: Metachromatic leukodystrophy is an inherited metabolic storage disease characterized by the absence of the enzyme arylsulfatase A and increased storage of sulfatide. Alternative Names: MLD; Arylsulfatase A deficiency 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, 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. Symptoms: irritability decreased muscle tone abnormal high muscle tone, spasm, abnormal muscle movements

42. Metachromatic Leukodystrophy The Official Parent's Sourcebook on metachromatic leukodystrophy (ArylsulfataseA Deficiency; Cerebroside Sulfatase Deficiency; Diffuse Cerebral Sclerosis http://www.icongrouponline.com/health/Metachromatic_Leukodystrophy.html

43. Leukodystrophy Hub Specific leukodystrophies include metachromatic leukodystrophy, Krabbe leukodystrophy,adrenoleukodystrophy, PelizaeusMerzbacher disease, Canavan disease http://www.projectlinks.org/leukodystrophy/

Leukodystrophy hub Leukodystrophy, also called "the leukodystrophies," refers to a group of genetic disorders that are characterized by the imperfect growth or development of the white matter or myelin sheath covering nerve fibers in the brain. Specific leukodystrophies include metachromatic leukodystrophy, Krabbe leukodystrophy, adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, Alexander disease, Zellweger syndrome, Refsum disease, and cerebrotendinous xanthomatosis. The most common signs seen in most leukodystrophies include gradual changes in an infant or child who previously appeared well. Changes may appear in body tone, movements, gait, speech, ability to eat, vision, hearing, behavior, memory, or thought processes. The symptoms, which vary according to the specific type of leukodystrophy, may be difficult to recognize in the early stages of the disease. Acne Allergy Antibiotics Antioxidants ... NINDS Leukodystrophy Information Page - by The National Institute of Neurological Disorders and Stroke, National Institutes of Health. Metachromatic leukodystrophy - by MEDLINEplus.

44. ARSA Reference. 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 CGG-CAG Arg-Gln Metachromatic leukodystrophy tCGG-TGG Arg-Trp 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 CCC-CTC Pro-Leu Metachromatic leukodystrophy gCCC-TCC Pro-Ser 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 CCT-CGT Pro-Arg Metachromatic leukodystrophy cGAC-AAC Asp-Asn Metachromatic leukodystrophy TGT-TAT Cys-Tyr Metachromatic leukodystrophy ATC-AGC Ile-Ser Metachromatic leukodystrophy CAGc-CAC Gln-His Metachromatic leukodystrophy gCCC-ACC Pro-Thr Metachromatic leukodystrophy TGGc-TGA Trp-Term Metachromatic leukodystrophy TAC-TGC Tyr-Cys Metachromatic leukodystrophy GCC-GTC Ala-Val Metachromatic leukodystrophy GCC-GTC Ala-Val Metachromatic leukodystrophy

45. NEJM -- Molecular Basis Of Different Forms Of Metachromatic Leukodystrophy Original Article from The New England Journal of Medicine Molecularbasis of different forms of metachromatic leukodystrophy. http://content.nejm.org/cgi/content/short/324/1/18

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Previous Volume 324:18-22 January 3, 1991 Number 1 Next Molecular basis of different forms of metachromatic leukodystrophy A Polten, AL Fluharty, CB Fluharty, J Kappler, K von Figura, and V Gieselmann Table of Contents Find Similar Articles in the Journal Notify a friend about this article Add to Personal Archive ... Related Articles in Medline Articles in Medline by Author: Polten, A. Gieselmann, V. Medline Citation Abstract Source Information Department of Biochemistry II, Georg-August-Universitat Gottingen, Germany. This article has been cited by other articles: von Bulow, R., Schmidt, B., Dierks, T., Schwabauer, N., Schilling, K., Weber, E., Uson, I., von Figura, K. (2002). Defective Oligomerization of Arylsulfatase A as a Cause of Its Instability in Lysosomes and Metachromatic Leukodystrophy. J. Biol. Chem. [Abstract] [Full Text] Coulter-Mackie, M B, Rip, J, Beis, M J, Ferreira, P, Ludman, M D (2001). Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism. J. Med. Genet.

46. NEJM -- Molecular Basis Of Different Forms Of Metachromatic Leukodystrophy Next Next. Molecular basis of different forms of metachromatic leukodystrophy APolten, AL Fluharty, CB Fluharty, J Kappler, K von Figura, and V Gieselmann. http://content.nejm.org/cgi/content/abstract/324/1/18

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Previous Volume 324:18-22 January 3, 1991 Number 1 Next Molecular basis of different forms of metachromatic leukodystrophy A Polten, AL Fluharty, CB Fluharty, J Kappler, K von Figura, and V Gieselmann Table of Contents Find Similar Articles in the Journal Notify a friend about this article Add to Personal Archive ... Related Articles in Medline Articles in Medline by Author: Polten, A. Gieselmann, V. Medline Citation Abstract Source Information Department of Biochemistry II, Georg-August-Universitat Gottingen, Germany. This article has been cited by other articles: von Bulow, R., Schmidt, B., Dierks, T., Schwabauer, N., Schilling, K., Weber, E., Uson, I., von Figura, K. (2002). Defective Oligomerization of Arylsulfatase A as a Cause of Its Instability in Lysosomes and Metachromatic Leukodystrophy. J. Biol. Chem. [Abstract] [Full Text] Coulter-Mackie, M B, Rip, J, Beis, M J, Ferreira, P, Ludman, M D (2001). Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism. J. Med. Genet.

47. Metachromatic Leukodystrophy metachromatic leukodystrophy. This A colleague's 2 year old daughterhas just been diagnosed as having metachromatic leukodystrophy. I http://neuro-www.mgh.harvard.edu/neurowebforum/ChildNeurologyArticles/Metachroma

Metachromatic leukodystrophy This article submitted by cathie@mail.north.net on 9/5/95. A colleague's 2 year old daughter has just been diagnosed as having Metachromatic Leukodystrophy. I understand that this disease is a strain of "Lorenzo's Oil". Her prognosis with this disease is poor, average survival rate I understand is 3 to 4 years of age. We are located in Toronto Canada and I am trying to find out as much as I can about medical care, support groups, research information so that we can act quickly to make sure that Bethany can get treatment if there is any with the right doctors. We would appreciate any help you can give us on this matter.. Next Article Previous Article Return to Topic Menu Here is a list of responses that have been posted to this article... Need help (4/16/96) 9:38 AM Brain MRS study (9/12/95) 8:07 PM Response to MLD family (9/10/95) 3:45 PM You now have TWO OPTIONS: Post a new Article or post a Response to this Article Click here to post a new Article! If you would like to post a Response to this article, fill out this form completely... Do not use slashes ("/") or colons (":") in your Article title!

48. Adult Metachromatic Leukodystrophy Adult metachromatic leukodystrophy. This article submitted by on 3/30/98. Is anyoneout there a caregiver for an adult with metachromatic leukodystrophy. http://neuro-www.mgh.harvard.edu/forum/CaregiverSupportF/3.30.987.53PMAdultMetac

Adult Metachromatic Leukodystrophy This article submitted by on 3/30/98. Email Address: I've just recently found this forum. Is anyone out there a caregiver for an adult with Metachromatic Leukodystrophy. If so I'd very much like to talk with you Next Article Previous Article Return to Neurological Disorder Topic Menu Here is a list of responses that have been posted regarding this article... If you want to post a completely new article on any topic you like, click here. If you would like to post a direct response to this article, fill out this form completely... Response Title: Name: Email: Remember that your Name and Email Address are optional...you don't have to enter them! You can remain completely anonymous if you like by leaving these fields empty. Response Text: Click HERE to return to the main Neurology WebForum Homepage. These forums are maintained by the Department of Neurology at Massachusetts General Hospital John Lester - Webspinner

49. Metachromatic Leukodystrophy metachromatic leukodystrophy (Arylsulfatase A ARSA Deficiency; Cerebral Sclerosis,Diffuse, Metachromatic Form; Cerebroside Sulfatase Deficiency; Greenfield http://www.bdid.com/metachromaticleukodystrophy.htm

HOME Metachromatic Leukodystrophy ( Ar yl s ulfatase A ARSA ] Deficiency; Cerebral Sclerosis, Diffuse, Metachromatic Form; Cerebroside Sulfatase Deficiency; Greenfield Disease; Sulfatide Lipidosis) Arylsulfatase A deficiency METACHROMATIC LEUKODYSTROPHY METACHROMATIC LEUKODYSTROPHY metachromatic leukodystrophy information sheet ... HOME

50. ClinicalTrials.gov - Linking Patients To Medical Research: Results Search results for metachromatic leukodystrophy ALLFIELDS are shown below.Show all trials, including those no longer recruiting patients. http://clinicaltrials.gov/search/term=Metachromatic Leukodystrophy

Home Search Browse Resources ... About Search results for Metachromatic Leukodystrophy [ALL-FIELDS] are shown below. Show all trials, including those no longer recruiting patients. 2 studies were found. Recruiting Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Conditions: I Cell Disease; Fucosidosis; Globoid Cell Leukodystrophy; Adrenoleukodystrophy; Mannosidosis; Niemann-Pick Disease; Pulmonary Complications; ... Recruiting Phase II Study of Allogeneic Bone Marrow or Umbilical Cord Blood Transplantation in Patients With Lysosomal or Peroxisomal Inborn Errors of Metabolism Conditions: Graft Versus Host Disease; Lysosomal Storage Diseases; Peroxisomal Disorders U.S. National Library of Medicine Contact NLM Customer Service National Institutes of Health Freedom of Information Act ... Accessibility

51. BirdFoundation - In Gondola Per Pietro Ghezzo metachromatic leukodystrophy (LDM). The Association Rare Diseases pioneerin the individuation of a cure for this severe genetic disease. 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.

52. Metachromatic Leukodystrophy metachromatic leukodystrophy,, Print this article, metachromatic leukodystrophy, Fig.1 Twoyear-old child with metachromatic leukodystrophy. T2-weighted image. http://www.amershamhealth.com/medcyclopaedia/Volume VII/METACHROMATIC LEUKODYSTR

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Metachromatic leukodystrophy, a lysosomal storage disorder which, when seen in children, usually presents with ataxia, dysphagia and progressive physical and mental deterioration. There is constipation and ichthyosis. Radiologically, on MR imaging there is increased signal in the white matter ( Fig.1 ), ventricular dilatation secondary to the brain atrophy and demyelination. HC The Encyclopaedia of Medical Imaging Volume VII Metachromatic leukodystrophy, Fig. 1 Two-year-old child with metachromatic leukodystrophy. T2-weighted image. Note diffuse increase in signal in the white matter at both the anterior and posterior horns of the ventricles. (Image courtesy of Dr. Ethna Phelan, Our Lady's Hospital, Dublin.) Welcome to Medcyclopaedia.

53. Metachromatic Leukodystrophy only. metachromatic leukodystrophy,, Print this article, Metachromaticleukodystrophy, Fig. 1 a, b. CT scan without contrast. Diffuse http://www.amershamhealth.com/medcyclopaedia/Volume VI 1/METACHROMATIC LEUKODYST

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Metachromatic leukodystrophy, a progressive autosomal recessive white matter lysosomal disease caused by a deficiency of the enzyme arylsulphatase A. The diagnosis is based on the finding of enzyme activity of arylsulphatase A in the urine and peripheral leukocytes. There are three principal forms: late infantile (presenting at the age 2–3 years), juvenile (presenting at 4–6 years), and the adult variant. The late infantile form is the most common. The child presents with difficulty in walking, marked by frequent falls within the second and third year of life. The disease progresses quickly with poor speech, mental deterioration, and hypertonia, which develops into decerebrate and decorticate posture within 3–6 months. Seizures are common. In the juvenile form, symptoms do not usually develop until 4 years. The clinical picture is similar to the late infantile form, except that the child is old enough to show behavioural disturbances as well. Pathologically, symmetrical demyelination with sparing of the U-fibres is found. Metachromatic sulphatides accumulate in the central and peripheral nervous system.

54. Metachromatic Leukodystrophy Print this article. Find related articles By topic Neurology. By keywordsReceive HealthLink via email! Subscribe now . metachromatic leukodystrophy. http://oci.mcw.edu/article/921440824.html

Search: search tips Email this article Print this article Find related articles: By topic: Neurology By keywords: Receive Health Link via email! Subscribe now >> Metachromatic Leukodystrophy Metachromatic leukodystrophy (MLD) is a genetic disorder caused by a deficiency of the enzyme arylsulfatase A. It is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty coveringwhich acts as an insulatoron nerve fibers in the brain. There are three forms of MLD: late infantile, juvenile, and adult. In the late infantile form, which is the most common, onset of symptoms begins between ages 6 months and 2 years. The infant is usually normal at birth, but eventually loses previously gained abilities. Symptoms include hypotonia (low muscle tone), speech abnormalities, loss of mental abilities, blindness, rigidity (uncontrolled muscle tightness), convulsions, impaired swallowing, paralysis, and dementia. Symptoms of the juvenile form begin between ages 4 and 14, and include impaired school performance, mental deterioration, ataxia, seizures, and dementia. In the adult form, symptoms, which begin after age 16, may include impaired concentration, depression, psychiatric disturbances, ataxia, tremor, and dementia. Seizures may occur in the adult form, but are less common than in the other forms.

55. ORPHANET® : Metachromatic Leukodystrophy ORPHANET. ORPHANET database access. metachromatic leukodystrophy. Directaccess to details Alias Arylsulfatase A deficiency. Home Page. http://www.orpha.net/static/GB/metachromatic_leukodystrophy.html

ORPHANET database access Metachromatic leukodystrophy Direct access to details Alias : Home Page

56. Error Page DISEASE metachromatic leukodystrophy, Synonym(s) ArylsulfataseA deficiency, CIM E75.2, metachromatic leukodystrophy is caused http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=512

57. Resourses Demyelinating diseases, leukodystrophy Introduction to Leukodystrophy Leukodystrophy,metachromatic leukodystrophy metachromatic leukodystrophy Metachromatic http://sargon.mmu.ac.uk/RESORC12.HTM

Health and Disability-Related Web Sites Page 12 of 26 updated 22/8/97 LANGUAGE DISORDER..................... American Speech-Language-Hearing Association Building Speech and Language Skills Hanen Center Hyperlexia page ... Speech and Language Milestone Chart LANDAU-KLEFFNER SYNDROME.................... Evaluation of Landau-Kleffner Syndrome Landua-Kleffner syndrome Kleffner Syndrome: A case study. A Review of Seizure Disorders and Landau-Kleffner Syndrome LARSEN SYNDROME......see SINDING-LARSEN-JOHANSSON DISEASE LAW.......................... Consumer law LEIGH'S DISEASE.............. FAQ Sheet on Leigh's Disease Leigh's Center Newsletter Leigh's Syndrome, 33 abstracts from Medline Leigh's Syndrome, Mitrochondrial Differential Diagnosis ... PALS (People Affected by Leigh's Syndrome) LENNOX GASTAUT SYNDROME.......................... Lennox Gastaut, what is it LEUKEMIA................................... Leukemia Society of America LEUKODYSTROPHY......................... Adrenoleukodystrophy Adrenoleukodystrophy Demyelinating diseases, leukodystrophy Introduction to Leukodystrophy ... Zachary's Home Page,Looking for Breakthroughs in Leukodystrophy LIFE PLANNING....................... National Institute on Life Planning for Persons with Disabilities LIST OF LISTS.....................

58. DISEASE: Metachromatic Leukodystrophy DISEASE metachromatic leukodystrophy. Related Terms. A comprehensive manual foranyone interested in selfdirected research on metachromatic leukodystrophy. http://disease.bigtome.com/big/page/Metachromatic_Leukodystrophy

DISEASE: Metachromatic Leukodystrophy Related Terms Leukodystrophy Metachromatic leukodystrophy Adrenal leukodystrophy Featured Web Pages Metachromatic Leukodystrophy $28.95 - http://www.icongrouponline.com "The Official Patient's Sourcebook" on metachromatic leukodystrophy. A comprehensive manual for anyone interested in self-directed research on metachromatic leukodystrophy. Categories (1-3 of 3) Health: Conditions_and_Diseases: Neurological_Disorders: Demyelinating_Diseases: Leukodystrophy: Metachromatic_Leukodystrophy Health: Conditions_and_Diseases: Neurological_Disorders: Demyelinating_Diseases: Leukodystrophy Society: Religion_and_Spirituality: Christianity: Personal_Pages: M Web Pages 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). - http://www.mldfoundation.org Health: Conditions and Diseases: Neurological Disorders: Demyelinating Diseases: Leukodystrophy: Metachromatic Leukodystrophy NINDS - Metachromatic Leukodystrophy A short information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke. - http://www.ninds.nih.gov/health_and_medical/disorders/meta_leu_doc.htm

59. Metachromatic Leukodystrophy - General Practice Notebook medical information from General Practice Notebook. metachromatic leukodystrophy.metachromatic leukodystrophy is an autosomal recessive http://www.gpnotebook.co.uk/cache/-1818623963.htm

metachromatic leukodystrophy Metachromatic leukodystrophy is an autosomal recessive disorder of sphingolipid metabolism caused by a deficiency of aryl-sulfatase A. The result is an accumulation of lipids such as galactosyl sulfatide. The disorder may be diagnosed prenatally by amniocentesis and assay of the aryl-sulfatase A activity. Click here for more information...

60. MLD (metachromatic Leukodystrophy) - General Practice Notebook medical information from General Practice Notebook. MLD (metachromaticleukodystrophy). metachromatic leukodystrophy is an autosomal http://www.gpnotebook.co.uk/cache/1751842867.htm

MLD (metachromatic leukodystrophy) Metachromatic leukodystrophy is an autosomal recessive disorder of sphingolipid metabolism caused by a deficiency of aryl-sulfatase A. The result is an accumulation of lipids such as galactosyl sulfatide. The disorder may be diagnosed prenatally by amniocentesis and assay of the aryl-sulfatase A activity. Click here for more information...

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