Extractions: Leukodystrophy refers to a group of genetic disorders that are characterized by the imperfect development or maintenance of the white matter (myelin sheath covering nerve fibers in the brain). The myelin sheath is an extremely complex fatty substance made of many components. Each of the leukodystrophies affects one of these components. 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.
Leukodystrophy MLD Foundation metachromatic leukodystrophy Foundation (MLD) 21345 Miles Drive, West Linn, OR 97068 Phone 1+ 503656-4808 or 800-617-8387 http://www.kumc.edu/gec/support/leukodys.html
Extractions: United Leukodystrophy Foundation 2304 Highland Dr., Sycamore, IL 60178 Phone: 800.728.5483 Fax: 815.895.2432 Web Site: www.ulf.org E-mail: ulf@ceet.niu.edu Index of conditions (listed above), Information in Spanish, French, German Adrenoleukodystrophy fact sheet, Sept 1997, National Institutes of Health, Bethesda, MD Pelizaeus-Merzbacher Support Group 209-211 City Road, London EC1V 1JN Phone: 020 7608 8700 Fax: 020 7608 8701 Minicom 020 7608 8702 Helpline 0808 808 3555 Freephone for parents and families (10am-4pm, Mon-Fri) E-mail: info@cafamily.org.uk Web Site: www.cafamily.org.uk/Direct/p15.html Pelizaeus-Merzbacher Disease Support Group Indianapolis, Indiana, E-mail: daviau1@juno.co Newsletter, Annual PMD Family Conference PMD Foundation , (Pelizaeus-Merzbacher Disease), 333 Homestead Avenue, Haddonfield, NJ 08033 Phone: 856.795.1539
Extractions: This Article Full Text (PDF) Submit a response Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Natowicz, M. R. Articles by Newburg, D. S. MR Natowicz, EM Prence, P Chaturvedi and DS Newburg Division of Medical Genetics, Shriver Center for Mental Retardation, Waltham, MA 02254, USA. A deficiency of the lysosomal enzyme arylsulfatase A (ASA) causes the lysosomal storage disorder metachromatic leukodystrophy (MLD). The diagnosis of MLD is straightforward in cases with deficient leukocyte or fibroblast ASA activity and a typical clinical history. However, several atypical and late-onset forms of MLD have been described. The diagnosis is
MLD (metachromatic Leukodystrophy) - General Practice Notebook metachromatic leukodystrophy is an autosomal recessive disorder of sphingolipid metabolism caused by a deficiency of arylsulfatase A. The result is an 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.
Hunter's Hope: MLD metachromatic leukodystrophy. MLD is caused by a genetic defect that results in the lack of a lysosomal enzyme, Arylsulfatase A. This enzyme normally breaks http://www.huntershope.org/krabbe/other_leukos/mld.asp
Extractions: In the summer of 2002, the Trimper family was leading a rather normal life. Jeff and Jane were teachers in Ohio with 3 healthy children. In October, 2002, all that changed. After their son Max, 8, fell on his schools playground last year, he was taken to the hospital and underwent a MRI, which showed positive for MLD. Doctors then tested the other two Trimper children - Maddie, 5 and Sam, 3 - and both were found to have the gene that carries the disease also. All three of their children were diagnosed with the same fatal disease. After much soul-searching, the Trimpers decided on a stem cell transplantation for Max. Currently, he is undergoing physical, occupational and speech therapy following his January 2003 transplant. Maddie and Sam remain symptom free, but it is assumed that left untreated, they would begin displaying symptoms at around age 7. The Trimpers plan on having them transplanted in the Fall of 2003.
Atlas Of Ultrastructural Neurocytology metachromatic leukodystrophy (demyelinating neuropathy caused by the absence of arylsulfatase A). Schwann cell cytoplasm contains curvilinear inclusions ( C http://synapses.mcg.edu/atlas/7_2_4_2.stm
Atlas Of Ultrastructural Neurocytology metachromatic leukodystrophy (demyelinating neuropathy caused by the absence of arylsulfatase A). Schwann cell cytoplasm contains phagocytosed myelin http://synapses.mcg.edu/atlas/7_2_4_1.stm
United Leukodystrophy Foundation - You Are Not Alone United leukodystrophy Foundation The leukodystrophies are = genetically determined progressive disorders that affect the brain, = spinal cord and http://www.ulf.org/
Extractions: Buy Now Mission Statement: The United Leukodystrophy Foundation is dedicated to helping children and adults who have Leukodystrophy and assisting the family members, professionals and support services that serve them. The ULF is committed to the identification, treatment and cure of all leukodystrophies through programs of education, advocacy, research and service. Please be patient while we construct our new website.