Mannosidosis mannosidosis is a genetic disorder characterized by a lysosomal enzyme deficiency resulting in progressive mental and physical deterioration. mannosidosis. http://www.bchealthguide.org/kbase/nord/nord420.htm
Extractions: It is possible that the main title of the report 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. Information on the following diseases can be found in the Related Disorders section of this report: Mannosidosis is a genetic disorder characterized by a lysosomal enzyme deficiency resulting in progressive mental and physical deterioration. A deficiency of the enzyme alpha-D-mannosidase causes the symptoms of this disorder which can vary in severity. Symptoms of the most severe form may begin within the first year of life while a milder form may begin during juvenile or adult years. Symptoms of the most severe form of Mannosidosis may begin within the first year of life. This form is characterized by rapid progression of mental retardation, liver and spleen enlargement, skeletal abnormalities, and coarse facial features. A milder form of this disorder involves normal early development although mild to moderate mental retardation may develop during childhood or adolescence. The clinical progression of the disease appears to slow down or stop beyond school age in some patients.
Mannosidosis, Alpha Self Help Clearinghouse. mannosidosis, Alpha. International Society for mannosidosis and Related Diseases. for mannosidosis Related Diseases, Inc. http://www.bchealthguide.org/kbase/shc/shc29man.htm
Extractions: Provides emotional support for families affected by any oligosaccharide disorders of lysosomal storage. Offers educational resources for medical community. Promotes research to develop treatments. Phone support, literature, pen pals, information and referrals, newsletter, advocacy. Online message boards, chat rooms and e-mail discussions. The above information is based upon information available through the "verified" date at the end of each listing. Since American Self-Help Group Clearinghouse's resources are limited; it is not possible to keep every entry in the American Self-Help Group Clearinghouse database completely current and accurate. Please check with the organizations listed for the most current information. For additional information and assistance about self-help groups, please contact the American Self-Help Group Clearinghouse in Cedar Knolls, New Jersey, by email at: info@selfhelpgroups.org
Beta-Mannosidosis Advanced Search. Genetic DisordersDiscussion Beta-mannosidosis By Dagny Vidinsh Nov 6, 2002, 1149am, http//dagron.com/ Beta-mannosidosis. http://goatconnection.com/articles/publish/article_130.shtml
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Beta-Mannosidosis Information from GoatConnection.com Genetic DisordersDiscussion Beta-mannosidosis By Dagny Vidinsh Nov 6, 2002, 1149am. http//dagron.com/ Beta-mannosidosis. http://goatconnection.com/articles/publish/printer_130.shtml
Extractions: Beta-Mannosidosis Beta-mannosidosis is a genetic defect of Nubians which is similar to G-6-S in its mode of transmission and in the method recommended for its management. Like G-6-S, it is confined to Nubian goats, it is caused by a simple recessive gene, and a DNA test is available to distinguish normal, carrier, and affected animals. As for G-6-S, the optimal management strategy, the one which offers the best balance between getting rid of the bad gene and saving the good genes, is to use only normal bucks. Unlike G-6-S, beta-Mannosidosis is rapidly fatal and no affected goats grow up to breed. For that reason the incidence of this defect is lower than the incidence of G-6-S, with only about 13% of the population being carriers. An affected kid is born with what looks like cerebral palsy. The kid is unable to stand or to hold up its head, and it shakes if it tries to do anything (intentional tremor). If it tries to reach the nipple it shakes violently and fails, but if the nipple is put in its mouth it calms down and is able to suck. It may also have skeletal deformities, and twitching eye movement and be deaf, but these symptoms are more obscure and variable. The cause of these difficulties is the lack of an enzyme which normally removes certain sugars from the cells. These sugars accumulate in the cells, and the cells of the nervous system show the effects first. Even with the best care the kid will die within a few weeks at the most.
Entrez PubMed Click here to read Spectrum of mutations in alphamannosidosis. alpha-mannosidosis/genetics*. Substances Mannosidases; alpha-Mannosidase. Secondary Source ID http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9
Genetic Disorders, Mannosidosis More mannosidosis Categories » Submit Your Site to the mannosidosis category. Sponsored mannosidosis Sites. Submit Your Site to the mannosidosis category. http://www.iseekhealth.com/mannosidosis-1599.php
Genetic Disorders, Mannosidosis below Category Home Health Conditions and Diseases Genetic Disorders mannosidosis. * Site Title · The name of the site. (eg http://www.iseekhealth.com/directory/index.php?method=show_link_exchange&directo
Extractions: Mannosidosis is a progressive storage disease caused by a deficiency of the enzyme alpha mannosidase in cats and is inherited by an autosomal recessive mode. The disease results in massive storage of sugars (oligosaccharides) in lysosomes of neuronal tissue and other cells Clinical signs occur in the first month of life and are progressive, leading to death by a few months. Although the deficiency can be determined by enzyme measurements in blood, there is a DNA test for one specific disease-mutation in several Persian and domestic shorthair/longhair cats. Clinical Signs: Beside failure to thrive and growth retardation, clinical signs include facial dysmorphia, ataxia, head and body tremors, skeletal deformities, behavioral changes, seizures and visual deficits. Cataracts and organomegaly may also be noted. Cytoplasmic vacuolization may be recognized in white blood cells. Affected Breeds:
Mannosidosis mannosidosis. GeneReviews alphamannosidosis. Notes for physicians on alpha-mannosidosis (Lysosomal Alpha-D-Mannosidase Deficiency). mannosidosis / genetics;. http://omni.ac.uk/browse/mesh/C0024748L0024748.html
Extractions: low graphics other: Glycogen Storage Disease Lactose Intolerance GeneReviews : alpha-mannosidosis Notes for physicians on alpha-mannosidosis (Lysosomal Alpha-D-Mannosidase Deficiency). This document includes diagnosis, a clinical description, differential diagnosis, management, genetic counselling, and molecular genetics. Posted in October 2001, this resource forms part of GeneReviews (formerly GeneClinics profile), a peer-reviewed clinical genetic information resource that is funded by the US National Institutes of Health (NIH) and produced by the University of Washington, Seattle. This resource contains a summary and bibliographical references of the review. Free access to the full-text version of the review requires brief registration. Mannosidosis / genetics
CCHS Clinical Digital Library Alpha mannosidosis Clinical Resources. Miscellaneous Alpha mannosidosis Clinical Resources Health Reviews for Primary Care Providers on the Internet Homepage http://cchs-dl.slis.ua.edu/clinical/metabolism/inborn/lysosomalstorage/glycoprot
Extractions: Clinical Resources by Topic: Metabolic Disorders Alpha Mannosidosis Clinical Resources Pediatrics Pathology Genetics Clinical Guidelines ... Miscellaneous Resources See also: MD Consult Reference Books: Table of contents Health Sciences Library subscription INFO Otolaryngology and Facial Plastic Surgery (eMedicine): Table of contents Pediatrics Resources See also General Pediatrics Resources Behrman: Nelson Textbook of Pediatrics 17th Ed.-2004 (MD Consult):
CCHS Clinical Digital Library Beta mannosidosis Clinical Resources. Miscellaneous Beta mannosidosis Clinical Resources Health Reviews for Primary Care Providers on the Internet Homepage http://cchs-dl.slis.ua.edu/clinical/metabolism/inborn/lysosomalstorage/glycoprot
Extractions: Clinical Resources by Topic: Metabolic Disorders Beta Mannosidosis Clinical Resources Pediatrics Pathology Genetics Clinical Guidelines ... Miscellaneous Resources See also: MD Consult Reference Books: Table of contents Health Sciences Library subscription INFO Otolaryngology and Facial Plastic Surgery (eMedicine): Table of contents Pediatrics Resources See also General Pediatrics Resources Behrman: Nelson Textbook of Pediatrics 17th Ed.-2004 (MD Consult):
Genetic Disorders: Mannosidosis Genetic Disorders mannosidosis. International Society for mannosidosis Related Diseases. Information about the organization, its mission and services. http://www.puredirectory.com/Health/Conditions-and-Diseases/Genetic-Disorders/Ma
Mannosidosis Home Health Conditions and Diseases Genetic Disorders mannosidosis (2) NORD mannosidosis - Offers alternative names, a general discussion and resources. http://www.thenewhealthfind.com/Health/ConditionsandDiseases/GeneticDisorders/Ma
Health, Conditions And Diseases, Genetic Disorders: Mannosidosis mannosidosis is a genetic disorder characterized by a lysosomal enzyme deficiency resulting in progressive mental and physical deterioration. http://www.combose.com/Health/Conditions_and_Diseases/Genetic_Disorders/Mannosid
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Mannosidosis mannosidosis. mannosidosis is a genetic disorder characterized by a lysosomal enzyme deficiency resulting in progressive mental and physical deterioration. http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=nord420
Mannosidosis, Alpha mannosidosis, Alpha. Self Help Clearinghouse. International Society for mannosidosis and Related Diseases. International network. http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=shc29man
Conditions And Diseases - Mannosidosis Top Links mannosidosis Web Site Links. International Society for mannosidosis Related Diseases Information about the organization, its mission and services. http://www.disease-resources.com/Top_Health_Conditions_and_Diseases_Genetic_Diso
