41. 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

42. Diagnosis - Hair Defects Table Kinky hair syndrome, menkes syndrome, 309400. Kwashiorkor, menkes syndrome,Kinky hair syndrome, Steely hair disease (Copper transport disease), 309400. http://www.keratin.com/ab/ab006.shtml

hair defects table Home Forums Privacy Advertising ... Home On this page... Introduction List of disorders involving hair fiber defects as a primary symptom List of disorders involving hair fiber defects as a secondary symptom 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

43. Menkes' Disease 6. Kaler SG. Diagnosis and therapy of menkes syndrome, a genetic form of copperdeficiency. Am J Clin Nutr1998;671029S–34S. Menkes’s syndrome. http://www.mycustompak.com/healthNotes/Concern/Menkes_Disease.htm

Also indexed as: Menkes' Syndrome Introduction Checklist Symptoms Treatments ... 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. Rating Nutritional Supplements Herbs Copper (injectable) Reliable and relatively consistent scientific data showing a substantial health benefit. Contradictory, insufficient, or preliminary studies suggesting a health benefit or minimal health benefit. An herb is primarily supported by traditional use, or the herb or supplement has little scientific support and/or minimal health benefit. How is it treated? There is no effective conventional treatment known. Nutritional supplements that may be helpful: Copper zinc metabolism that reduces copper availability. Are there any side effects or interactions? Refer to the individual supplement for information about any side effects or interactions.

44. 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

45. 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

Disease Nutrition Surgery Symptoms Injury ... Z Related Programs at North Arundel Hospital Orthopaedic Services Home Medical Reference Encyclopedia (English) Toggle English Spanish Menkes syndrome Overview Symptoms Treatment Prevention Definition: An inherited disorder that results in problems in multiple parts of the body due to cells not having enough copper. Alternative Names: Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease 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. Hypotonia Review Date: 11/12/2001 Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

46. 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

Disease Nutrition Surgery Symptoms Injury ... Z Related Programs at UM Medical Center Department of Orthopaedics Home Medical Reference Encyclopedia (English) Toggle English Spanish Menkes syndrome Overview Symptoms Treatment Prevention Definition: An inherited disorder that results in problems in multiple parts of the body due to cells not having enough copper. Alternative Names: Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease 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. Hypotonia Review Date: 11/12/2001 Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Home Health Info Our Physicians Our Services ... Make Appt.

47. 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

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.

48. Department Of Human Genetics - Clinical Laboratory And Patient Services menkes syndrome An Xlinked recessive condition characterized by kinky, brittlehair; progressive cerebral deterioration; seizures; mental and growth http://www.genes.uchicago.edu/clinic/MenkesTest.html

Clinical Laboratory Services Sequencing for Menkes and Occipital Horn Syndrome Testing Menkes syndrome: An X-linked recessive condition characterized by kinky, brittle hair; progressive cerebral deterioration; seizures; mental and growth retardation; hypopigmentation; specific bone changes; death in early childhood; and decreased serum copper and ceruloplasmin. Atypical Menkes syndrome: Such as those patients with a longer lifespan or normal hair. Occipital horn syndrome (OHS)/X-linked cutis laxa: Characterized by exostoses on each side of the foramen magnum, cutis laxa, joint laxity, obstructive uropathy and bladder diverticula, loose stools, and mild mental retardation. We offer full gene sequencing for mutations associated with the above phenotypes. Sample submission paperwork and instructions are included with this fax. Sample specifications: 5-10 cc of peripheral blood in EDTA (purple top) tube Cost: $2025 * CPT codes: 83891, 83898 x4, 83904 x9, 83912

49. 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

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) Acid-Base Imbalance Acidosis:MEDLINEplus Medical Encyclopedia Metabolic Acidosis:Hendrick Health System Leucine Metabolism Disorders:Mead Johnson Renal Tubular Acidosis:NIDDK ... Respiratory Alkalosis:Hendrick Health System Adrenoleukodystrophy 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 Alexander Disease:NINDS Alexanders Disease:United Leukodystrophy Foundation Alexander Disease:GeneReviews, University of Washington Amyloidosis What is Amyloidosis?:Amyloidosis Support Network

50. Definitions Of Genetic Disorders-K 512.htm. Kinky Hair Disease (menkes syndrome) http//www.ninds.nih.gov/health_and_medical/disorders/menkes/menkes.htm.Kisbourne Syndrome http://www.icomm.ca/geneinfo/def-k.htm

The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Definitions of Genetic Disorders beginning with the letter K Click on the link next to the disorder to view its definition. Kabuki Make-Up Syndrome kabuki.htm Kahler Disease multmyo.htm Kallmann Syndrome kallmann.htm Kanner Syndrome aut.htm Kanzaki Disease schindler.htm Kaposi Disease (not Kaposi Sarcoma) xp.htm Kappa Light Chain Deficiency agamprim.htm Karsch-Neugebauer Syndrome ectodact.htm Karsch-Neugebauer Syndrome splithand.htm Kartagener Syndrome-Chronic Sinobronchial Disease and Dextrocardia kartagener.htm Kartagener Triad kartagener.htm Kasabach-Merritt Syndrome htc.htm Kast Syndrome maffuci.htm Kawasaki Disease kawasaki.htm Kawasaki Syndrome kawasaki.htm KBG Syndrome kbg.htm KD kennedy.htm Kearns-Sayre Disease kss.htm Kearns-Sayre Syndrome kss.htm

51. 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

52. 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

Menkes syndrome A Medical Encyclopedia Article provided by Maryland General Hospital A resource with information on over 4000 medical topics including: Menkes syndrome Previous Next

53. 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

54. Menkes Syndrome : A Serious Medical Condition. Resources To Obtain And Further U menkes syndrome A serious medical condition. Resources to obtain and furtherunderstanding of the topic. the keywords include menkes syndrome . http://databank.oxydex.com/compendium_bibliographium/advanced_medical_specialtie

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55. 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

56. 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=

57. Menkes (Kinky Hair) Disease Menkes Disease); MENKES DISEASE; Menkes (Kinky Hair) Disease; diagnosis hair defects table; menkes syndrome; Menke's disease information http://www.bdid.com/menkes.htm

HOME Menkes (Kinky Hair) Disease Menkes' kinky-hair disease: radiologic findings in a patient treated with... The "Friends of Alexander Deihl" is a non-profit organization established to help children and their families who have been affected by a crippling disorder or are terminally ill (Alexander has Menkes Disease) MENKES DISEASE Menkes (Kinky Hair) Disease diagnosis - hair defects table Menkes syndrome ... HOME

58. EMedicine - Menkes Kinky Hair Disease : Article Excerpt By: Stephen G Kaler, MD, and Related Terms MKHD, copper transport disorder, kinkyhair disease, KHS, kinkyhair syndrome, kinky-hair syndrome, MKHS, menkes syndrome, OHS, occipital http://www.emedicine.com/ped/byname/menkes-kinky-hair-disease.htm

(advertisement) Excerpt from Menkes Kinky Hair Disease 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 Please click here to view the full topic text: Menkes Kinky Hair Disease 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 author’s experience) and mitigated the neurologic effects in others. However, some patients with MKHD (nearly 50% in the author’s 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.

59. Mental Retardation Kinky Hair Syndrome Search PUBMED for Kinky Hair Syndrome All Review TherapyDiagnosis; menkes syndrome; Menkes kinkyhair syndrome Med. Coll. http://www.ohsu.edu/cliniweb/C10/C10.496.html

Mental Retardation Back to previous level Angelman Syndrome Search PUBMED for Angelman Syndrome: All Review Therapy Diagnosis ... Angelman Syndrome: U. of Reading Cockayne Syndrome Search PUBMED for Cockayne Syndrome: All Review Therapy Diagnosis ... Cockayne syndrome: Med. Coll. of Wisconsin Cri-du-Chat Syndrome Search PUBMED for Cri-du-Chat Syndrome: All Review Therapy Diagnosis ... Cri-du-Chat Syndrome: OMIM De Lange's Syndrome Search PUBMED for De Lange's Syndrome: All Review Therapy Diagnosis Down Syndrome Search PUBMED for Down Syndrome: All Review Therapy Diagnosis ... Wormian bones: Med. Coll. of Wisconsin Fragile X Syndrome Search PUBMED for Fragile X Syndrome: All Review Therapy Diagnosis ... Gangliosidoses [3 more specific term/s, 3 more link/s] Search PUBMED for Gangliosidoses: All Review Therapy Diagnosis Gaucher's Disease Search PUBMED for Gaucher's Disease: All Review Therapy Diagnosis ... Gaucher's Disease: U. of Pittsburgh Med. Ctr. Hallervorden-Spatz Syndrome Search PUBMED for Hallervorden-Spatz Syndrome: All Review Therapy Diagnosis ... Hallervorden-Spatz disease: Med. Coll. of Wisconsin Hartnup Disease Search PUBMED for Hartnup Disease: All Review Therapy Diagnosis Homocystinuria Search PUBMED for Homocystinuria: All Review Therapy Diagnosis ... Arachnodactyly: Med. Coll. of Wisconsin

60. 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

Disease Injury Nutrition Poison ... Prevention Menkes syndrome Definition: An inherited disorder that results in problems in multiple parts of the body due to cells not having enough copper. Alternative Names: Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease 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. Review Date: 11/12/2001 Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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