Directory :: Look.com to anyone interested in making friends, sharing information and providing supportfor persons affected by Menkes Kinky Hair Syndrome menkes syndrome In depth http://www.look.com/searchroute/directorysearch.asp?p=433190
Extractions: hair defects table Home Forums Privacy Advertising ... Home On this page... Introduction The tables below records disorders known to involve hair shaft defects. The first table lists disorders where hair defects are a primary symptom. The second table lists disorders where hair defects can be one of several symptoms. Typically the other symptoms are of greater concern and health/life threatening. Links to relevant web pages on the Online Mendelian Inheritance in Man (OMIM) web database are also given where possible. Where a disorder is known by more than one name, alternative names are given in the second column and the record duplicated in the first column under each respective name. Brackets around alternative disorder names indicate an indirect association, for example a subcategory of the disorder. These records are not duplicated in the first column. List of disorders involving hair fiber defects as a primary symptom Disorders with hair defects as a primary symptom Alternative names for disorder Links to OMIM web pages for disorder (where available) Allotrichia circumscripta symmetrica capillitii
Menkes' Disease 6. Kaler SG. Diagnosis and therapy of menkes syndrome, a genetic form of copperdeficiency. Am J Clin Nutr1998;671029S34S. Menkess syndrome. http://www.mycustompak.com/healthNotes/Concern/Menkes_Disease.htm
Extractions: Also indexed as: Menkes' Syndrome copper However, it now appears that the severity of the disease varies from person to person. Medical doctors often use genetic analysis to diagnose this disorder, even before birth. In cases where the genetic defect appears responsive to copper therapy, early treatment is needed to minimize the severity of the physical defects that will develop later.
Health Content Encyclopedia Article Menkes Syndrome menkes syndrome having enough copper. Causes and Risk. menkes syndromeis inherited as an Xlinked recessive disorder. The disorder http://www.centralbap.com/adamcontent/ency/article/001160.asp
Menkes Syndrome menkes syndrome. Definition Causes, incidence, and risk factors Menkessyndrome is inherited as an Xlinked recessive disorder. http://www.northarundel.com/ency/article/001160.htm
Extractions: Causes, incidence, and risk factors: Menkes syndrome is inherited as an X-linked recessive disorder. The disorder is related to deficient levels of copper availability to cells. Symptoms include progressive mental deterioration, kinked, twisted and brittle hair, as well as skeletal changes. Death usually occurs in the first few years of life. About 1 in 300,000 individuals are affected.
Menkes Syndrome Home Medical Reference Encyclopedia (English) Toggle English / Spanish Menkessyndrome. menkes syndrome is inherited as an Xlinked recessive disorder. http://www.umm.edu/ency/article/001160.htm
Extractions: Causes, incidence, and risk factors: Menkes syndrome is inherited as an X-linked recessive disorder. The disorder is related to deficient levels of copper availability to cells. Symptoms include progressive mental deterioration, kinked, twisted and brittle hair, as well as skeletal changes. Death usually occurs in the first few years of life. About 1 in 300,000 individuals are affected.
Menkes Disease Menkes Disease. Also indexed as Menkes Syndrome. 6. Kaler SG. Diagnosisand therapy of menkes syndrome, a genetic form of copper deficiency. http://www.hollandandbarrett.com/Concern/Menkes_Disease.htm
Extractions: Also indexed as: copper However, it is now apparent the severity of the disease varies from individual to individual. Medical doctors often use genetic analysis to diagnose this disorder, even before birth. In cases where the genetic defect appears responsive to copper therapy, early treatment is needed to minimize the severity of the physical defects that will develop later. Conventional treatment options: There is no effective conventional treatment known. Nutritional supplements that may be helpful: Some studies have shown favorable effects of injectable copper on brain and nerve development in Menkes patients when the degree of genetic defect was mild and treatment was begun early. However, copper therapy does not benefit Menkes patients if the genetic defects are severe, or if therapy is begun after the physical defects manifest. Some researchers have observed that damaging levels of copper can build up in the tissues of some treated Menkes patients. and potentially dangerous. zinc metabolism that reduces copper availability.
The Health Library Nutritional & Metabolic Menkes Kinky Hair Syndrome. Menkes DiseaseNINDS. Genes and Disease menkes syndromeNationalCenter for Biotechnology Information. Mitochondrial Diseases. http://healthlibrary.stanford.edu/resources/internet/bodysystems/nutrition4.html
Extractions: Diseases and Disorders Use these links to jump directly to your topic of interest: Caffeine Carbohydrates Fats Fiber ... Page 7 Metabolic Disease (General) Metabolic Disorders:MEDLINEplus Metabolic Disorders:Merck What Is a Metabolic Disease:Canadian Society for Metabolic Disease How Many Are There? (overview of the more frequently-encountered metabolic diseases):Canadian Society for Metabolic Disease ... Adult Metabolic Transition Project (for young adults with metabolic diseases):University of Washington Metabolic Diseases (A -F) Acidosis:MEDLINEplus Medical Encyclopedia Metabolic Acidosis:Hendrick Health System Leucine Metabolism Disorders:Mead Johnson Renal Tubular Acidosis:NIDDK ... Respiratory Alkalosis:Hendrick Health System Adrenoleukodystrophy:NINDS Adrenoleukodystrophy:United Leukodystrophy Foundation Genes and Disease: Adreno-Leukodystrophy:National Center for Biotechnology Information X-Linked Adrenoleukodystrophy :GeneReviews, University of Washington Alexander Disease:NINDS Alexanders Disease:United Leukodystrophy Foundation Alexander Disease:GeneReviews, University of Washington What is Amyloidosis?:Amyloidosis Support Network
WWWRIOT Directory View: Health: Diseases stability. Justin Gordon menkes syndrome Real life experiences ofmenkes syndrome through the eyes of Justin Gordon and his family. http://www.dxpnet.com/riot/alphabetical.asp?c=50&char=J
Menkes Syndrome menkes syndrome. A Medical Encyclopedia Maryland General Hospital. A resourcewith information on over 4000 medical topics including menkes syndrome. http://www.bloodandmarrowtransplant.com/medical-terms/03028.htm
Connexion 1992. 24, Cloning of a candidate gene for menkes syndrome near the MNK translocationbreakpoint. 1991. 29, menkes syndrome in a girl with Xautosome translocation. http://www.dsi.univ-paris5.fr/genatlas/tbiblio.php?symbol=MNK
Extractions: Menkes syndrome : A serious medical condition. Resources to obtain and further understanding of the topic. A starting point for researchers, physicians, medical school students, health and policy professionals, and other biotechnology and science professionals. (Not recommended to the lay public). Special Item Alerts - These deserve your attention.
GeneCard For ATP7A Approved UCL/HGNC/HUGO Human Gene Nomenclature database symbol ATP7A(ATPase, Cu++ transporting, alpha polypeptide (menkes syndrome)). http://genecards.bcgsc.ca/cgi-bin/carddisp?ATP7A
Found 4913 Sites site describes the trials and successes of a young boy named Alexander Deihl, whosuffers from a genetic condition named menkes syndrome which prevents the http://n93.cs.fiu.edu/med.resource/FullNarrow.asp?startpage=80&Keywords=
Extractions: (advertisement) Synonyms, Key Words, and Related Terms: MKHD, copper transport disorder, kinky-hair disease, KHS, kinky hair syndrome, kinky-hair syndrome, MKHS, Menkes syndrome, OHS, occipital horn syndrome, trichopoliodystrophy, KHD Background: In the nearly 40 years since the original description of Menkes kinky hair disease (MKHD), advances in understanding the clinical, biochemical, and molecular aspects of this rare disorder of copper metabolism have outstripped progress in the design of effective therapies. The most promising therapy to date, very early subcutaneous copper injections, has normalized neurodevelopmental outcome in some individuals with MKHD (approximately 15% in the authors experience) and mitigated the neurologic effects in others. However, some patients with MKHD (nearly 50% in the authors experience) have not derived substantive benefit from this approach, despite very early institution of treatment. Identification of the Menkes gene by positional cloning has enabled molecular diagnosis of females who carry the gene and at-risk fetuses in certain families, enhancing preventive efforts. Evidence that the gene encodes a highly conserved copper-transporting adenosine triphosphatase (ATPase) has stimulated investigation of the molecule's normal function in prokaryotic and eukaryotic systems. Knowledge gleaned from such efforts ultimately may suggest the novel therapeutic strategies needed to achieve normal neurologic outcomes in patients with MKHD regardless of mutation severity. While early recognition of infants with MKHD prior to neurologic damage remains a fundamental requirement, the recent advances provide a glimmer of hope in efforts to improve matters for individuals with MKHD and the families who care for them.
Menkes Syndrome - Overview menkes syndrome. Alternative names Causes, incidence, and risk factorsmenkes syndrome is inherited as an Xlinked recessive disorder. http://www.audrainmedicalcenter.com/ency/article/001160.htm
Extractions: Causes, incidence, and risk factors: Menkes syndrome is inherited as an X-linked recessive disorder. The disorder is related to deficient levels of copper availability to cells. Symptoms include progressive mental deterioration, kinked, twisted and brittle hair, as well as skeletal changes. Death usually occurs in the first few years of life. About 1 in 300,000 individuals are affected.
