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Topic: Metachromatic leukodystrophy

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	MedFriendly.com: Metachromatic leukodystrophy
		Metachromatic leukodystrophy is a type of metabolic disorder that leads to a deadly build up of fats (known as lipids) in the body and the destruction of myelin.
		Metachromatic leukodystrophy is an inherited disorder, meaning that it is passed on to the child from the parents' genes.
		In metachromatic leukodystrophy, the myelin is destroyed in the brain, spine, and the peripheral nerves (nerves outside of the brain and spine).
	www.medfriendly.com /metachromaticleukodystrophy.html (737 words)

	Metachromatic leukodystrophy - Evanston Northwestern Healthcare (Site not responding. Last check: 2007-10-13)
		Metachromatic leukodystrophy (MLD) is a genetic disorder that affects nerves, muscles, and other organs.
		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.
		Metachromatic Leukodystrophy is caused by a mutation in the gene that makes arylsulfatase A. The disease is inherited as an autosomal recessive genetic disorder.
	www.enh.org /healthandwellness/Encyclopedia/ency/article/001205.aspx (544 words)

	Leukodystrophy, Metachromatic
		Metachromatic Leukodystrophy is inherited as an autosomal recessive genetic trait.
		Canavan's Leukodystrophy is caused by a deficiency of the enzyme aspartoacylase.
		Krabbe's Leukodystrophy is a rare inherited metabolic disorder characterized by the abnormal accumulation of a fatty substance (ceremide galactoside) in the brain.
	hw.healthdialog.com /kbase/nord/nord212.htm (2413 words)

	Metachromatic leukodystrophy (Site not responding. Last check: 2007-10-13)
		Metachromatic leukodystrophy is a neurodegenerative disease characterised by an accumulation of sulfatides (sulphated glycosphingolipids, especially sulfogalactosylceramides or sulfogalactocerebrosides) in the nervous system and kidneys.
		Metachromatic leukodystrophy is autosomal recessive and results from an inability to metabolise cerebroside sulphate.
		The clinical symptoms of metachromatic leukodystrophy due activator deficiency are identical to those found in infantile or juvenile metachromatic leukodystrophy.
	www.orpha.net /static/GB/metachromatic_leukodystrophy.html (416 words)

	[No title]
		Metachromatic leukodystrophy is due to deficiency of cerebroside sulfatase.
		Metachromatic lipids: The lipids accumulating in the white matter is mainly cerebroside sulfate, and that in the kidney are mainly cerebroside sulfate plus cerebtroside dihexose sulfate (lactosylceramide sulfate).
		Metachromatic granules are bound by a single membrane and associated with acid phosphatase suggestive of a lysomal origin.
	moon.ouhsc.edu /kfung/JTY1/NeuroHelp/ZNF5IE01.htm (1142 words)

	[ What is MLD ] - Bethanys Hope - MLD Research
		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).
		Metachromatic Leukodystrophy is inherited as an autosomal recessive trait.
	www.bethanyshope.org /mld.html (184 words)

	Metachromatic Leukodystrophy - WrongDiagnosis.com
		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 covering -which acts as an insulator - on nerve fibers in the brain.
		Metachromatic Leukodystrophy is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		Metachromatic leukodystrophy (MLD) is the most common form of a family of genetic diseases known as the leukodystrophies, diseases which affect the growth and/or development of myelin, the fatty covering which acts as an insulator around nerve fibres throughout the central and peripherial nervous systems.
	www.wrongdiagnosis.com /m/metachromatic_leukodystrophy/intro.htm (787 words)

	Leukodystrophy
		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.
		The symptoms, which vary according to the specific type of leukodystrophy, may be difficult to recognize in the early stages of the disease.
		Treatment of the leukodystrophies is symptomatic and supportive, and may include medications, physical, occupational and speech therapies, and nutritional, educational, and recreational programs.
	healthlink.mcw.edu /article/921774741.html (235 words)

	Baylor Neurology Case of the Month
		This is caused by deficiency of the enzyme galactosylceramide beta-galactosidase.
		Metachromatic leukodystrophy (sulfatide lipidosis) is a lysosomal storage disease caused by the deficiency of the enzyme arylsulfatase A. The inheritance is autosomal recessive, and the incidence is estimated to be 1:40,000.
		Three different forms can be distinguished depending on the age of onset: a severe late-infantile form starting between the ages of 1 and 3 years, a juvenile form with an age of onset of 3-16 years, and an adult form that may not become apparent before the third decade of life.
	www.bcm.edu /neurol/challeng/pat37/summary.html (2103 words)

	Metachromatic Leukodystrophy Information Page: National Institute of Neurological Disorders and Stroke (NINDS)
		Metachromatic leukodystrophy (MLD) is one of a group of genetic disorders called the leukodystrophies.
		Each of the leukodystrophies is the result of a defect in the gene that controls one (and only one) of the enzymes.
		MLD is caused by a deficiency of the enzyme arylsulfatase A.
	www.ninds.nih.gov /health_and_medical/disorders/meta_leu_doc.htm (478 words)

	Metachromatic Leukodystrophy of the Brain
		•Metachromatic leukodystrophy is an inherited disease of myelin due to lack of arylsulphatase.
		The sulfatides stain with PAS and metachromatically brown with acid cresyl violet.
		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.
	radiology.uchc.edu /eAtlas/CNS/1723.htm (196 words)

	Leucodistrofie/METACHROMATIC LEUKODYSTROPHY
		Galactosphingosulfatides that are strongly metachromatic, doubly refractile inpolarized light and pink with PAS are found in excess in the white matter of the central nervous system, in the kidney and in the urinary sediment (Austin, 1960).
		Only one asterisk is assigned to the metachromatic leukodystrophies, adult and late infantile forms, because the enzymatic evidence indicates that these are allelic disorders.
		Gieselmann, V. An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy.
	web.peacelink.it /appeal/gianmarco/vi.html (6613 words)

	Lysosomal storage diseases
		Metachromatic leukodystrophy (MLD) is an autosomal recessive deficiency of arylsulfatase A that results in accumulation of the myelin lipid sulfatide in oligodendrocytes and Schwann cells.
		In its most common variant, patients are normal up to age one or two years, and then develop progressive peripheral neuropathy, psychomotor retardation, and blindness.
		Sulfatides are also asymptomatically stored in a variety of somatic cells such as the epithelium of the gallbladder and renal tubules.
	neuropathology.neoucom.edu /chapter10/chapter10bLSDs.html (1408 words)

	NEJM -- Molecular basis of different forms of metachromatic leukodystrophy
		Metachromatic leukodystrophy is an autosomal recessive inherited lysosomal storage disorder caused by a deficiency of arylsulfatase A. Three forms of the disease can be distinguished according to severity and the age at onset: late infantile (1 to 2 years), juvenile (3 to 16), and adult (greater than 16).
		Two alleles (termed I and A) were identified and accounted for about half of all arylsulfatase A alleles among 68 patients with metachromatic leukodystrophy whom we examined.
		Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism.
	content.nejm.org /cgi/content/abstract/324/1/18 (526 words)

	Metachromatic Leukodystrophy: Diffusion MR Imaging Findings -- Sener 23 (8): 1424 -- American Journal of Neuroradiology
		Metachromatic leukodystrophy is caused by a deficiency of arylsulfatase-A
		A diagnosis of metachromatic leukodystrophy was confirmed by
		Dementia with impaired temporal glucose metabolism in late-onset metachromatic leukodystrophy.
	www.ajnr.org /cgi/content/full/23/8/1424 (1032 words)

	Metachromatic Leukodystrophy: A Model for the Study of Psychosis -- Black et al. 15 (3): 289 -- J Neuropsychiatry Clin ...
		Metachromatic Leukodystrophy: A Model for the Study of Psychosis -- Black et al.
		Finelli PF: Metachromatic leukodystrophy manifesting as a schizophrenic disorder—computed tomographic correlation.
		Reider-Grosswasser I, Bornstein N: CT and MRI in late-onset metachromatic leukodystrophy.
	neuro.psychiatryonline.org /cgi/content/full/15/3/289 (2508 words)

	Australian Leukodystrophy Support Group Inc. - Metachromatic Leukodystrophy (MLD)
		Metachromatic Leukodystrophy is unusual among the leukodystrophies because, rather than being caused by too little of a myelin sheath component, it is caused by too much of one.
		A lack of the enzyme arylsulfatase A leads to a build up of sulfatides, a component of the myelin sheath, in the patient's nervous system in various organs in the body such as the kidney, liver, and gall bladder.
		Although Metachromatic Leukodystrophy, along with Adrenoleukodystrophy, is probably the most frequently observed leukodystrophy, the reason why this increase in sulfatide levels causes demyelination is as yet unknown
	www.alds.org.au /mld.htm (372 words)

	Metachromatic Leukodystrophy - Health Centers
		Research is ongoing to study techniques to replace the lacking enzyme (arylsulfatase A).
		For additional information and resources, see the United Leukodystrophy Association at www.ulf.org.
		Click here for the IBS privacy policy, terms of use.
	www.channel3000.com /encyclopedia/6861675/detail.html (513 words)

	The DRM WebWatcher: Leukodystrophy
		Leukodystrophy refers to a group of genetic disorders that are characterized by the imperfect growth or development of the myelin sheath that covers nerve fibers in the brain.
		Most leukodystrophies are characterized by a gradual changes in an infant or child who previously appeared well.
		There are various forms of leukodystrophy, including Specific leukodystrophies include metachromatic leukodystrophy, Krabbe leukodystrophy, adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, and Alexander disease.
	www.disabilityresources.org /LEUKO.html (79 words)

	BBC - h2g2 - Metachromatic Leukodystrophy - A Genetic Disease
		Metachromatic Leukodystrophy (MLD) is a genetic disease where the lysosomes
		It is obvious that Metachromatic Leukodystrophy is a very severe and deadly disease.
		Although Metachromatic Leukodystrophy is a very rare genetic disease, it is obvious that it is nevertheless a very dangerous and deadly disease for those who have it.
	www.bbc.co.uk /dna/h2g2/A1325189 (2679 words)

	Metachromatic Leukodystrophy Education - MLD Foundation
		Hunter's Hope - is focused on increasing the public awareness of Krabbe Disease and other Leukodystrophies, increasing the likelihood of early detection and treatment, and fund research efforts to identify new treatments, therapies, and a cure for Krabbe Disease.
		Australian Leukodystrophy Support Group provides counseling, encouragement, support, resources, research and information leukodystrophy sufferers and their families.
		Brianne's LEAP (Leukodystrophy Education and Awareness Project) of Hope - is dedicated to raising public awareness and funds for research into white matter diseases, otherwise known as the Leukodystrophies
	www.mldfoundation.org /links-education.html (337 words)

	Arch Neurol -- Abstract: Psychiatric disturbances in metachromatic leukodystrophy. Insights into the neurobiology of ...
		Arch Neurol -- Abstract: Psychiatric disturbances in metachromatic leukodystrophy.
		Metachromatic leukodystrophy is a rare inherited disorder of the nervous
		leukodystrophy presenting when the patient is between 12 and 30 years.
	archneur.ama-assn.org /cgi/content/abstract/49/4/401 (322 words)

	Cell therapy slows progression of metachromatic leukodystrophy
		In an important discovery, scientists have demonstrated that the progression of a type of genetic brain disease is slowed and symptoms are improved in mice that received cell transplants.
		The new study, published in the March 22 issue of The Journal of Neuroscience, may have implications for developing new therapies for metachromatic leukodystrophy, or MLD, a fatal, relatively rare inherited disorder that in humans usually begins early in life.
		In the disease, the fatty substance sulfatide accumulates in the brain due to the lack of an enzyme and causes loss of the white matter or myelin protecting nerve fibers.
	www.news-medical.net /?id=16865 (412 words)

	MLD Family - Compassion & support for families with metachromatic leukodystrophy (Site not responding. Last check: 2007-10-13)
		Click here to visit our website where you will find descriptions of MLD, updates on current MLD research, and information about connecting with others that have metachromatic leukodystrophy.
		The MLD Foundation is a 501 (c)(3) non-profit organization formed in May 2001 to serve families affected by metachromatic leukodystrophy (MLD), a terminal genetic condition affecting people throughout the world.
		Donations to the MLD Foundation are tax deductible and will be used to further activities in one of these four areas.
	www.mldfamily.com (132 words)

	Treatment of Metachromatic Leukodystrophy at Mayo Clinic
		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.
		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.
		The genetic defect in metachromatic leukodystrophy is a deficiency of arylsulfatase A, an enzyme which breaks down a substance known as sulfatide.
	www.mayoclinic.org /metachromatic-leukodystrophy (332 words)

	Leukodystrophy Information Page: National Institute of Neurological Disorders and Stroke (NINDS)
		Specific leukodystrophies include metachromatic leukodystrophy, Krabbé disease, adrenoleukodystrophy, Pelizaeus-Merzbacher disease, Canavan disease, Childhood Ataxia with Central Nervous System Hypomyelination or CACH (also known as Vanishing White Matter Disease), Alexander disease, Refsum disease, and cerebrotendinous xanthomatosis.
		Treatment for most of the leukodystrophies is symptomatic and supportive, and may include medications, physical, occupational, and speech therapies; and nutritional, educational, and recreational programs.
		The goals of this research are to increase scientific understanding of these disorders, and to find ways to prevent, treat, and, ultimately, cure them.
	www.ninds.nih.gov /disorders/leukodystrophy/leukodystrophy.htm (415 words)

	Metachromatic leukodystrophy
		The United Leukodystrophy Association can be reached at www.ulf.org or call 800-728-5483.
		Metachromatic leukodystrophy is a severely debilitating progressive disease whose outcome is fatal.
		Genetic counseling is recommended for parents with a family history of metachromatic leukodystrophy who are planning a pregnancy.
	www.adam.com /democontent/hie/ency/article/001205.htm (465 words)

	AllRefer Health - Metachromatic Leukodystrophy (Arylsulfatase A Deficiency, MLD)
		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.
		In these diseases, patients lack a protein needed to metabolize the food we eat.
		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.
	health.allrefer.com /health/metachromatic-leukodystrophy-info.html (465 words)

	Gene therapy a possibility for metachromatic leukodystrophy?
		Metachromatic leukodystrophy (MLD) is an inherited disease that causes progressively more severe neurological defects that result in death early in life.
		Individuals with MLD have a genetic defect that means they lack a protein known as ARSA.
		In an accompanying commentary, Harald Neumann, from the University of Bonn in Germany, suggests that studies to determine whether microglial cells could be used as vehicles for gene therapy for other genetic defects affecting the brain should be undertaken.
	www.eurekalert.org /pub_releases/2006-11/joci-gta102506.php (263 words)

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