61. Menkes’ Disease Search Menkes’ Disease. Also indexed as Menkes Syndrome. 6. Kaler SG. Diagnosis and therapy of menkes syndrome, a genetic form of copper deficiency. http://www.vitacost.com/science/hn/Concern/Menkes_Disease.htm

My account View cart / Checkout Email us Enter keyword or item number New Products Products Categories Brands ... Health Concerns Get Our Full Color Catalog delivered to your door. FREE! A convenient way to shop and get the health information you want! A weekly nutritional advice newsletter from our staff of medical doctors. eNewsletter Archives Your Right to Privacy Customer Service Ordering Methods Shipping Information 5 Star Guarantee Download Order Forms Still have questions? Talk to one of our friendly customer service representatives using Live Chat Science Health Notes Encyclopedia Product Reviews Age Related Macular Degeneration News News Room eNewsletter Archives Vitacost News Releases Additional Resources Physician's Reference Guide and Discount Program drkoop.com health-fitness-tips.com drdrew.com ... Join our affiliate program! Index: All Healthnotes Indexes Foodnotes Health Centers Health Concerns Herbal Remedies Homeopathy Recipes Recipes by Course Recipes by Main Ingredient Recipes International Recipes Seasonal Safetychecker Special Diets Special Recipes Vitamin Guide Weight Control Health Center Search: Also indexed as: Menkes' Syndrome Introduction Checklist Symptoms Treatments ... copper utilization.

62. Health Library - Kaler SG. Diagnosis and therapy of menkes syndrome, a genetic form of copper deficiency. Am J Clin Nutr1998;671029S34S. Menkes s syndrome. http://yalenewhavenhealth.org/Library/HealthGuide/CAM/topic.asp?hwid=hn-1237000

63. Object Name ATPase, Cu++ Transporting, Alpha Polypeptide (Menkes Syndrome) GDB Object Name ATPase, Cu++ transporting, alpha polypeptide (menkes syndrome). http://wehih.wehi.edu.au/gdb-bin/genera/genera/hgd/ObjectName/41271237?!sub=0

64. Disease - Menkes Syndrome - Detroit, Michigan Disease menkes syndrome - courtesy of Henry Ford Health System of Detroit, Michigan. Back to main Health Information page Disease - menkes syndrome. http://www.henryfordhealth.org/12182.cfm

Health Encyclopedia Back to main Health Information page Disease - Menkes syndrome Hypotonia Definition: Menkes syndrome is 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 And Risk: Menkes syndrome is inherited as an X-linked recessive disorder. The disorder is related to deficient levels of copper in the cells. Symptoms include progressive mental deterioration, kinked, twisted and brittle hair, and skeletal changes. Death usually occurs in the first few years of life. About 1 in 300,000 individuals are affected. Prevention: Genetic counseling is recommended for prospective parents with a family history of Menkes syndrome. Evaluation by a geneticist is recommended for maternal relatives of an affected boy to determine genetic risks and carrier status. Symptoms: Pudgy, rosy cheeks

65. Menkes' Disease Menkes’ Disease. Also indexed as Menkes Syndrome. 6. Kaler SG. Diagnosis and therapy of menkes syndrome, a genetic form of copper deficiency. 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.

66. 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

67. Department Of Human Genetics - Clinical Laboratory And Patient Services ATP7A / menkes syndrome Testing Forms and Documentation. Atypical menkes syndrome Such as those patients with a longer lifespan or normal hair. http://genes.uchicago.edu/clinic/MenkesTest.html

Clinical Laboratory and Patient Services / Menkes Syndrome Testing Forms and Documentation 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 Turn-around time: 4-6 weeks * Once a mutation is identified, other family members can be tested for the same mutation for a fee of $390 per blood sample (CPT codes: 83891, 83898 x2, 83894, 83912), and prenatal samples can be tested for a fee of $540 per sample (CPT codes: 83891, 83898 x2, 83894, 83912, 88235-52).

68. Menkes Syndrome Information, Clues, Links, And Other Useful Starting Points ... menkes syndrome Information, Clues, Links, and Other Useful Starting Points Sometimes, Some Downloadable PDF s If the information http://www.llpoh.org/lqsearch.php3?search_term=Menkes syndrome

69. Munson Healthcare Diseases, Conditions and Injuries. menkes syndrome. Definition. menkes syndrome is an inherited genetic disorder due to an abnormal gene, ATP7A. http://www.munsonhealthcare.org/cgi-bin/WebObjects/mhc.woa/wa/hgc?s=n&w=symptoms

70. Menkes Disease METALLOTHIONEIN GENE REGULATION IN MENKES SYNDROME DH Hamer; Arch Dermatol (October 1987; 123(10)). menkes syndrome IN A GIRL WITH XAUTOSOME TRANSLOCATION. http://www.bchealthguide.org/kbase/nord/nord603.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord603"; var hwDocTitle="Menkes Disease"; var hwRank="1"; var hwSectionHWID="nord603"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Menkes Disease Important 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. Synonyms Kinky Hair Disease Steely Hair Disease Trichopoliodystrophy X-linked Copper Deficiency Copper Transport Disease Disorder Subdivisions X-linked Copper Malabsorption Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Wilson's Disease Primary Biliary Cirrhosis Indian Childhood Cirrhosis General Discussion Menkes Disease is a genetic disorder of copper metabolism beginning before birth. Copper accumulates in excessive amounts in the liver, and is deficient in most other tissues of the body. Structural changes occur in the hair, brain, bones, liver and arteries. Symptoms Causes Menkes Disease is inherited as an X-linked recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. X-linked recessive disorders are conditions that are coded on the X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. Therefore, in females, disease traits on the X chromosome can be masked by the normal gene on the other X chromosome. Since males only have one X chromosome, if they inherit a gene for a disease present on the X, it will be expressed. Men with X-linked disorders transmit the gene to all their daughters, who are carriers, but never to their sons. Women who are carriers of an X-linked disorder have a 50 percent risk of transmitting the carrier condition to their daughters, and a 50 percent risk of transmitting the disease to their sons.

71. NodeWorks - Vitamins & Minerals: Menkes' Syndrome About Menkes Syndrome with support. thumbnail, 4. menkes syndrome A definition and a look at the epidemiology, pathophysiology, clinical manifestations http://dir.nodeworks.com/Health/Conditions_and_Diseases/Nutrition_and_Metabolism

in entire NodeWorks Directory in Health in ++ Menkes' Syndrome Top Health Menkes' Syndrome Friends of Alexander Deihl A non-profit organization established to help children and their families who have been affected by a crippling disorder or are terminally ill. About Menkes' Syndrome with support. Menkes Disease An information sheet this disease including treatment and prognosis. Menkes Support Group At eGroups: Open to anyone interested in making friends, sharing information and providing support for persons affected by "Menkes Kinky Hair Syndrome" Menkes Syndrome A definition and a look at the epidemiology, pathophysiology, clinical manifestations, diagnosis, treatment, prognosis and reference. Menkes Syndrome In depth look at this disease including the following, description, clinical features, biochemical and other features, molecular genetics, diagnosis and clinical management. Menkes' Syndrome An in depth look at this syndrome starting with alternate names. Clinical features, diagnosis and clinical management are a few to the topics covered. NodeWorks boosts web surfing!

72. EMedicine - Menkes Kinky Hair Disease : Article Excerpt By: Stephen G Kaler, MD, and Related Terms MKHD, copper transport disorder, kinkyhair disease, KHS, kinky hair 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.

73. Menkes’ Disease Menkes’ Disease. Also indexed as Menkes’ Syndrome. 6. Kaler SG. Diagnosis and therapy of menkes syndrome, a genetic form of copper deficiency. http://www.pccnaturalmarkets.com/health/Concern/Menkes_Disease.htm

weekly news service Health Concerns Health Centers Cold, Flu, and Allergy ... by Supplement Diet and Lifestyle Foodnotes Food Guide Healthy Eating Special Diets Weight Control ... Printer-friendly version Also indexed as: Introduction Checklist Symptoms Treatments ... copper utilization. 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. For an herb, supported by traditional use but minimal or no scientific evidence. For a supplement, little scientific support and/or minimal health benefit. Medical treatments There is no effective common treatment known.

74. Rare Pediatric Tumor Database menkes syndrome Document ID 78. WHAT menkes syndrome is a rare inherited condition in which a cell’s ability to absorb copper is decreased. http://www.madisonsfoundation.org/content/3/1/display.asp?did=78

75. Menkes’ Disease Menkes’ Disease. Also indexed as Menkes’ Syndrome. 6. Kaler SG. Diagnosis and therapy of menkes syndrome, a genetic form of copper deficiency. http://www.eniva.com/healthlib/Concern/Menkes_Disease.htm

76. PharmGKB: Menkes Kinky Hair Syndrome Congenital; Hypocupremias, Congenital; Kinky Hair Disease; Kinky Hair Diseases; Kinky Hair Syndrome; Menkes Disease; menkes syndrome; Menkes Disease; Menkes http://www.pharmgkb.org/do/serve?objId=PA444691&objCls=Disease

77. Nutrition And Metabolism Disorders - 267 Of The Best Sites Selected By Humans Scurvy Scurvy -Vitamin C and Scurvy -Scurvy WebMD -A Simple Experiment on Scurvy Vitamins_and_Minerals Menkes_Syndrome -menkes syndrome -menkes syndrome http://www.cbel.com/nutrition_and_metabolism_disorders/?order=alpha

78. GeneCard For ATP7A Approved UCL/HGNC/HUGO Human Gene Nomenclature database symbol ATP7A (ATPase, Cu++ transporting, alpha polypeptide (menkes syndrome)). http://www6.unito.it/cgi-bin/cards/carddisp?ATP7A

79. Dreambook - Justin Gordon And Menkes Syndrome Dreambook Justin Gordon and menkes syndrome Sign my Dreambook! Name, Email address, Homepage URL, Comments, http://books.dreambook.com/dani27/justin.sign.html

Dreambook: Justin Gordon and Menkes Syndrome Sign my Dreambook Name E-mail address Homepage URL Comments View Guestbook Justin Gordon and Menkes Syndrome

80. FORMULAIRE INSCRIPTION RECHERCHE WWW.LACHAINETTE.COM Translate this page Contacts Rare disease selected menkes syndrome Id, First name, Country, Web. 171, Léo, FRANCE, 172, Laurence, FRANCE, 648, Quentin, SWITZERLAND, http://www.lachainette.com/US/ContactsPathologie.php?Action=contacter&Id=170

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