21. AllRefer Health - Metachromatic Leukodystrophy (Arylsulfatase A Deficiency, MLD) metachromatic leukodystrophy (Arylsulfatase A Deficiency, MLD) information center covers causes, prevention, symptoms, diagnosis, treatment, incidence, http://health.allrefer.com/health/metachromatic-leukodystrophy-info.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Web health.allrefer.com You are here : AllRefer.com Health Metachromatic Leukodystrophy Metachromatic Leukodystrophy Definition Prevention Treatment Expectations or Prognosis ... Go To Main Page Alternate Names : Arylsulfatase A Deficiency, MLD 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.

22. EMedicine - Metachromatic Leukodystrophy Article By Theodore metachromatic leukodystrophy metachromatic leukodystrophy (MLD) is part of a larger group of lysosomal storage diseases, some of which are http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

23. AllRefer Health - Metachromatic Leukodystrophy Prevention (Arylsulfatase A Defic metachromatic leukodystrophy (Arylsulfatase A Deficiency, MLD) information center covers Prevention. http://health.allrefer.com/health/metachromatic-leukodystrophy-prevention.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia Web health.allrefer.com You are here : AllRefer.com Health Metachromatic Leukodystrophy : Prevention of Metachromatic Leukodystrophy Metachromatic Leukodystrophy Definition Prevention Treatment Expectations or Prognosis Complications Support Groups ... Go To Main Page Alternate Names : Arylsulfatase A Deficiency, MLD Prevention Genetic counseling is recommended for parents with a family history of metachromatic leukodystrophy who are planning a pregnancy. Previous Top Next Jump to another section Definition Prevention Treatment Prognosis Complications Support Groups ... Calling Your Health Care Provider Topics that might be of interest to you Optic Nerve Atrophy Psychosis CSF Collection CSF Total Protein ... Urine Chemistry Other Topics Autosomal Recessive Blindness Consciousness - Decreased Enzyme ... Swallowing Difficulty Review Date : 2/5/2003 Main Page of Metachromatic Leukodystrophy From Our Sponsors: A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's

24. BBC - H2g2 - Category Index Of Guide Entries Medical Maggots. Mental Health. Metabolic Diseases. metachromatic leukodystrophy A Genetic Disease. Microbes - Good or Bad? Migraine. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

25. Leukodystrophy, Metachromatic metachromatic leukodystrophy, the most common form of leukodystrophy, is a rare inherited neurometabolic http://my.webmd.com/hw/health_guide_atoz/nord212.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Leukodystrophy, Metachromatic Important It is possible that the main title of the report Leukodystrophy, Metachromatic is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Late-Onset Metachromatic Leukodystrophy ARSA Arylsulfatase A Deficiency Cerebroside Sulfatase Deficiency Diffuse Cerebral Sclerosis Greenfield Disease Metachromatic Form of Diffuse Cerebral Metachromatic Leukoencephalopathy MLD Sulfatide Lipidosis Sulfatidosis Disorder Subdivisions Late Infantile Metachromatic Leukodystrophy Juvenile Metachromatic Leukodystrophy Adult Metachromatic Leukodystrophy General Discussion Metachromatic leukodystrophy, the most common form of leukodystrophy, is a rare inherited neurometabolic disorder affecting the white matter of the brain (leukoencephalopathy). It is characterized by the accumulation of a fatty substance known as sulfatide (a sphingolipid) in the brain and other areas of the body (i.e., liver, gall bladder, kidneys, and/or spleen). The fatty protective covering on the nerve fibers (myelin) is lost from areas of the central nervous system (CNS) due to the buildup of sulfatide. Symptoms of metachromatic leukodystrophy may include convulsions, seizures, personality changes, spasticity, progressive dementia, motor disturbances progressing to paralysis, and/or visual impairment leading to blindness.

26. ► Metachromatic Leukodystrophy A medical encycopedia article on the topic metachromatic leukodystrophy. http://www.umm.edu/ency/article/001205.htm

var MenuLinkedBy='AllWebMenus [2]', awmBN='530'; awmAltUrl=''; Disease Nutrition Surgery Symptoms Injury ... Encyclopedia (English) Toggle English Spanish Metachromatic leukodystrophy Overview Symptoms Treatment Prevention 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

27. OMIM - METACHROMATIC LEUKODYSTROPHY http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=250100

28. Entrez PubMed Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified hematopoietic stem cells. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

29. Metachromatic Leukodystrophy MLD Cure, Research, Genetics, Testing metachromatic leukodystrophy diagnosis, research, cure, treatment (bone marrow, MSC, stem cell transplant), therapy, care, support, information, http://www.mldfoundation.org/MLD101.html

30. MedlinePlus Medical Encyclopedia: Metachromatic Leukodystrophy metachromatic leukodystrophy (MLD) is a genetic disorder that affects nerves metachromatic leukodystrophy is caused by a mutation in the gene that makes http://www.nlm.nih.gov/medlineplus/ency/article/001205.htm

@import url(/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Metachromatic leukodystrophy Contents of this page: Alternative names Definition Causes, incidence, and risk factors Symptoms ... Prevention Alternative names MLD; Arylsulfatase A deficiency Definition Return to top 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.

31. Treatment Of Metachromatic Leukodystrophy At Mayo Clinic Read more about diagnosis of metachromatic leukodystrophy. Treatment Options. Treatment options for metachromatic leukodystrophy are very limited. http://www.mayoclinic.org/metachromatic-leukodystrophy/

Home About Mayo Clinic Jobs Contact Us Mayo Clinic Locations: Arizona Florida Minnesota Mayo Clinic ... Medical Services Metachromatic Leukodystrophy Metachromatic Leukodystrophy Overview Diagnosis Treatment Options Appointments ... Medical Services Treatment of Metachromatic Leukodystrophy at Mayo Clinic (Synonyms: arylsulfatase A deficiency, white matter diseases) Metachromatic leukodystrophy (MLD) is a genetically inherited disorder, passed on from parents to their biological child, in which the brain and nervous system progressively deteriorate, the person loses brain and body functions and eventually dies. Mayo Clinic has experience in diagnosing and caring for patients with MLD, treating more than 150 such patients each year (the vast majority in Rochester). Treatment programs are tailored to each individual and take into account the needs of the patient and family, while providing state-of-the-art care and access to new developments and appropriate clinical trials. Diagnosis The patient will first have a complete physical examination, along with a detailed history of symptoms and family inherited disorders, including metachromatic leukodystrophy. Various tests may be required to aid in an accurate diagnosis. Read more about diagnosis of metachromatic leukodystrophy Treatment Options Treatment options for metachromatic leukodystrophy are very limited. Bone marrow transplantation, when performed early in the course of the disease, has been used effectively on appropriate patients, but also poses some risk. Gene therapy research may eventually lead to a cure or treatment to slow the progression of MLD disease. Genetic testing and genetic counseling are strongly recommended for adults with a family history of MLD. Read more about

32. Symptoms Of Metachromatic Leukodystrophy The symptoms of metachromatic leukodystrophy vary, depending on the age they develop and in Because metachromatic leukodystrophy is relatively rare, http://www.mayoclinic.org/metachromatic-leukodystrophy/symptoms.html

Home About Mayo Clinic Jobs Contact Us Mayo Clinic Locations: Arizona Florida Minnesota Mayo Clinic ... Medical Services Metachromatic Leukodystrophy Metachromatic Leukodystrophy Overview Diagnosis Symptoms of MLD Treatment Options ... Medical Services Symptoms of Metachromatic Leukodystrophy The symptoms of metachromatic leukodystrophy vary, depending on the age they develop and in degree of severity. Because metachromatic leukodystrophy is relatively rare, and the symptoms mimic other diseases, patients with MLD may be misdiagnosed. Children may be diagnosed with crebral palsy, deterioration in learning skills or behavioral disturbances. For people with late juvenile or adult MLD, early symptoms may mimic mental illness or psychiatric disorders. There are four forms of MLD. The forms and their symptoms are: Late infantile This is the most common form of metachromatic leukodystrophy. Symptoms appear at age 4 or younger and may include: Loss of motor development milestones, such as losing the ability to walk or stand up Problems walking (gait disturbances) Behavioral changes, such as increased irritability or decreased attention span

33. Metachromatic Leukodystrophy Medical Information metachromatic leukodystrophy Information from Drugs.com. http://www.drugs.com/enc/metachromatic_leukodystrophy.html

Home New Drugs Latest News Drug Interactions ... Forum Drugs.com - prescription drug and medicine information available on over 24,000 approved- medications and pharmaceuticals, including side effects and drug interactions. Log-in Register Advertisement Buy a Link Now Special Offers From our sponsors Categories Diabetes Gastro Center Weight Loss AIDS/HIV ... Sexual Health Advertisement Advanced Search Or click the first letter of a drug name: A B C D ... Z Metachromatic leukodystrophy Injury Disease Nutrition Poison ... Z 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:

34. Metachromatic Leukodystrophy (Sulfatidosis) NeuroLearn NeuroHelp Summary Sulfatidosis (metachromatic leukodystrophy) is a systemic disease metachromatic leukodystrophy is due to deficiency of cerebroside sulfatase. http://moon.ouhsc.edu/kfung/JTY1/NeuroHelp/ZNF5IE01.htm

Metachromatic Leukodystrophy (Sulfatidosis) NeuroLearn NeuroHelp Metabolic Lysosomal storage disorders, classification ... Gross Pathology BACKGROUND AND CLINICAL INFORMATION Head Summary: Sulfatidosis (metachromatic leukodystrophy) is a systemic disease that affects the CNS, PNS, and other organs. There are two common clinical subtypes and two rare clinical subtypes. Biochemically, it is characterized by abnormal catabolism of cerebroside sulfate resulted from deficiency of cerebrosulphatase and lead to accumulation ofcerebroside sulfate. The clinical test tests for arysulfatase A activity and pseudodeficiency can occur. Histologically characterized by demyelination and dysmyelination with accumulation of metachromatic inclusion bodies, presumably derivatives of cerebroside sulfate. Rare cases due to deficiency of saponin B, a co-factor necessary for cerebrosulphatase activity, can occur. Biochemistry: Cerebroside sulfate requires both cerebrosulphatase and saposin B, a co-factor, for its catabolism. The catabolism of sulfatide, a sphingolipid that is normal consistuent of myelin and cellular membranes, is defective in this disease. Metachromatic leukodystrophy is due to deficiency of cerebroside sulfatase. Sulfatide is stored in the lysosomes of oligodendrocytes and Schwann cells and also in many somatic tissues. No clinical manifestation is apparent when arylsulfatase is 10% or higher of normal level. Diagnostic test: In addition to the arylsulfatase, A deficiency, there is a loss of activity of arylsulfatases B and C, and other sulfatases involved in mucopolysaccharide degradation. Prenatal diagnosis can be made by enzymatic assay in aminocytes or chorionic villi. Pseudodeficiency may raise a difficult problem for prenatal diagnosis.

35. Leukodystrophy, Metachromatic metachromatic leukodystrophy, the most common form of leukodystrophy, is a rare inherited neurometabolic disorder affecting the white matter of the brain http://www.bchealthguide.org/kbase/nord/nord212.htm

var hwPrint=1;var hwDocHWID="nord212";var hwDocTitle="Leukodystrophy, Metachromatic";var hwRank="1";var hwSectionHWID="nord212-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Leukodystrophy, Metachromatic Important It is possible that the main title of the report Leukodystrophy, Metachromatic is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Late-Onset Metachromatic Leukodystrophy ARSA Arylsulfatase A Deficiency Cerebroside Sulfatase Deficiency Diffuse Cerebral Sclerosis Greenfield Disease Metachromatic Form of Diffuse Cerebral Metachromatic Leukoencephalopathy MLD Sulfatide Lipidosis Sulfatidosis Disorder Subdivisions Late Infantile Metachromatic Leukodystrophy Juvenile Metachromatic Leukodystrophy Adult Metachromatic Leukodystrophy General Discussion Metachromatic leukodystrophy, the most common form of leukodystrophy, is a rare inherited neurometabolic disorder affecting the white matter of the brain (leukoencephalopathy). It is characterized by the accumulation of a fatty substance known as sulfatide (a sphingolipid) in the brain and other areas of the body (i.e., liver, gall bladder, kidneys, and/or spleen). The fatty protective covering on the nerve fibers (myelin) is lost from areas of the central nervous system (CNS) due to the buildup of sulfatide. Symptoms of metachromatic leukodystrophy may include convulsions, seizures, personality changes, spasticity, progressive dementia, motor disturbances progressing to paralysis, and/or visual impairment leading to blindness.

36. [ What Is MLD ] - Bethanys Hope - MLD Research metachromatic leukodystrophy (MLD), the most common form of Leukodystrophy, Symptoms of metachromatic leukodystrophy may include convulsions, seizures, http://www.bethanyshope.org/mld.html

Metachromatic Leukodystrophy Metachromatic Leukodystrophy (MLD), the most common form of Leukodystrophy, is a rare inherited neurometabolic disorder affecting the white matter of the brain (Leukoencephalopathy). It is characterized by the accumulation of a fatty substance known as sulfatide (a sphingolipid) in the brain and other areas of the body (i.e., liver, gall bladder, kidneys, and/or spleen). The fatty protective covering on the nerve fibers (myelin) is lost from areas of the central nervous system (CNS) due to the buildup of sulfatide. Symptoms of Metachromatic Leukodystrophy may include convulsions, seizures, personality changes, spasticity, progressive dementia, motor disturbances progressing to paralysis, and/or visual impairment leading to blindness. Metachromatic Leukodystrophy is inherited as an autosomal recessive trait. There are three types of the disease that have similar symptoms. However, they are distinguished by the age of onset: infantile, juvenile, and adult forms of Metachromatic Leukodystrophy. MLD is a rare disease, affecting about one in 60,000 people.

37. Partners Leukodystrophy Service At MGH After XALD, metachromatic leukodystrophy (MLD) is the most frequently observed leukodystrophy. It is a progressive disorder, transmitted by autosomal http://fisher.mgh.harvard.edu/leuko/metochromatic.html

Home Staff Services Leukodystrophy categories Contact us Links Radiological Classification (Neonatal) Adrenoleukodystrophy and (Pseudoneonatal) Adrenoleukodystrophy ... Peroxisomal Biogenesis Disorders [PBD] (Zellweger-Neonatal ALD-Infantile Refsum-Rhizomelic Chondrodysplasia punctata) Metachromatic Leukodystrophy. Introduction Epidemiology Clinical Features Testing Radiology Biochemistry Electrophysiology Pathology Etiology Genetics Animal Models ... Future and ongoing studies Introduction After X-ALD, Metachromatic leukodystrophy (MLD) is the most frequently observed leukodystrophy. It is a progressive disorder, transmitted by autosomal recessive inheritance. Epidemiology After X-ALD, Metachromatic leukodystrophy (MLD) is the most frequently observed leukodystrophy. One in 40,000 births are affected. Return to top Clinical Features: MLD manifests in a late infantile, juvenile and adult form. A progressive dementia is the primary manifestation of the disease. Peripheral neuropathy is a prominent disease manifestation in the late infantile and juvenile forms. Patients with the adult form of MLD may initially present with psychiatric disease or, more rarely, isolated peripheral neuropathy. Unlike X-ALD, MLD demonstrates a close genotype to phenotype correlation with only one form of the disease developing in a particular family. Clinical Subtypes Return to top Testing Radiology MRI of brain shows a frontal predominant confluent white matter lesion with preferential thinning of the rostral corpus callosum (Faerber, Melvin et al. 1999).

38. Blackwell Synergy - Cookie Absent metachromatic leukodystrophy is associated with impaired myelination caused by There has been only one report of metachromatic leukodystrophy studied by http://www.blackwell-synergy.com/doi/abs/10.1034/j.1600-0455.2003.00094.x

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39. 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

Search Frames Search No frames PathWeb Home Feed Back ... About Metachromatic Leukodystrophy (low power) Click on Image to Enlarge it Metachromatic Leukodystrophy (low power) Very low power view of white matter in metachromatic leukodystrophy, showing many macrophages and granular collections of storage material as well as pallor of myelin. Metachromatic leukodystrophy is an inherited disease of myelin due to lack of arylsulphatase. As a result, abnormal myelin is formed. This abnormal myelin breaks down prematurely. (Description By:Margaret Grunnet, M.D. ) (Image Contrib. by:Margaret Grunnet, M.D. UCHC ) 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.

40. Metachromatic Leukodystrophy metachromatic leukodystrophy metachromatic leukodystrophy (MLD) is transmitted as an autosomal recessive trait, which means that a person must inherit http://www.lifespan.org/ADAM/English/HIE/001205.htm

Careers at Lifespan Volunteer your time Other ways to give Lifespan's A - Z Health Information Library Injury Disease Nutrition Poison ... Prevention 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 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

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