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
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
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
Extractions: Back to main Health Information page 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
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
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.
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
Extractions: 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).
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
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
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: 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. 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.
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
Extractions: 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.
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’ 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
Extractions: Diet and Lifestyle Foodnotes Food Guide Healthy Eating Special Diets Weight Control ... Printer-friendly version Also indexed as: 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.
Rare Pediatric Tumor Database menkes syndrome Document ID 78. WHAT menkes syndrome is a rare inherited condition in which a cells ability to absorb copper is decreased. http://www.madisonsfoundation.org/content/3/1/display.asp?did=78
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
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
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
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
