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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

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

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

Extractions: 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.
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

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 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
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

Extractions: 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 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.
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

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

Extractions: 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
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

Extractions: 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.
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

Extractions: *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. 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.)
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

Extractions: *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 23 years), juvenile (presenting at 46 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 36 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.
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

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

Extractions: 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.
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

Extractions: 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.

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