1. Menkes Syndrome MENKES DISEASE. AKA menkes syndrome, Kinky Hair Disease. Definition menkes syndrome is a Xlinked recessive disorder. It is a progressive http://www.dpo.uab.edu/~birmie/menkes.htm

MENKES DISEASE AKA: Menkes Syndrome, Kinky Hair Disease Definition Epidemiology Pathophysiology Clinical Manifestations ... Reference Page Definition: Menkes syndrome is a X-linked recessive disorder. It is a progressive, genetic, neurodegenerative disorder of copper metabolism characterized by degeneration of the CNS grey matter with distinctive facies and hair and progressive neurological deterioration. Epidemiology: 1 in 35,000 to 50,000 male births. Onset at 2-3 months of age. Pathophysiology: Menkes syndrome is a X-linked recessive disorder involving the gene that encodes a copper-transporting ATPase (located at Xq13). Specifically, there is a resultant decrease in copper transport across cellular compartments (primarily the GI tract) which causes a dysfunction in numerous copper-dependent enzyme systems 1)lysyl oxdase- intimal cleavage 4)tyrosinase- depigmentation of hair,skin pallor 2)monamide oxidase- kinky hair 5) cytochrome c oxidase- hypothermia 3) ascorbate oxidase- skeletal deformities Copper accumulates in excessive amounts in the liver and is deficient in most other tissues of the body, causing structural changes in the hair, brain, bones, liver, and arteries.

2. Menkes Syndrome Navigation. About this book. Nutritional and Metabolic Diseases. Adrenoleukodystrophy. Diabetes, type 1. Gaucher disease. Glucose galactose malabsorption. Hereditary hemochromatosis. LeschNyhan syndrome. Maple syrup urine disease. menkes syndrome and DiseaseNutritional and Metabolic Diseases. menkes syndrome. menkes syndrome is an inborn error of metabolism that http://www.ncbi.nlm.nih.gov/disease/Menkes.html

This Genes and Disease page has been moved to: Please update your bookmarks. If you are not automatically transported to the new page after 15 seconds, click on this link Genome View on the X chromosome Databases PubMed the literature LocusLink collection of gene-related information OMIM catalog of human genes and disorders MENKES' SYNDROME is an inborn error of metabolism that markedly decreases the cells' ability to absorb copper. The disorder causes severe cerebral degeneration and arterial changes, resulting in death in infancy. The disease can often be diagnosed by looking at a victim's hair, which appears to be both whitish and kinked when viewed under a microscope. Menkes' disease is transmitted as an X-linked recessive trait. Sufferers can not transport copper, which is needed by enzymes involved in making bone, nerve and other structures. A number of other diseases, including type IX Ehlers-Danlos syndrome, may be the result of allelic mutations (i.e. mutations in the same gene, but having slightly different symptoms) and it is hoped that research into these diseases may prove useful in fighting Menkes' disease. If administered within the first few months of life, copper histidinate appears to be effective in increasing the life expectancy of some patients. However, this treatment only increases life expectancy from three to thirteen years of age, so can only be considered a palliative. A similar condition to Menkes' disease exists in mice; working with these model organisms will help give insight into human copper transport mechanisms, so helping to develop effective treatments for Menkes' sufferers.

3. MedlinePlus Medical Encyclopedia: Menkes Syndrome Return to top. menkes syndrome is inherited as an Xlinked recessive disorder There is often a history of menkes syndrome in a male relative http://www.nlm.nih.gov/medlineplus/ency/article/001160.htm

@import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Menkes syndrome Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors ... Prevention Illustrations Hypotonia Alternative names Return to top Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease Definition Return to top Menkes syndrome is an inherited disorder that results in problems in multiple parts of the body due to cells not having enough copper. Causes, incidence, and risk factors Return to top 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. Symptoms Return to top Pudgy, rosy cheeks Floppy baby ( hypotonia Irritability Seizures Brittle, kinky hair

4. Menkes Syndrome Discussion of a case including the inheritance pattern and the biochemical changes. http://www.themedicaldirectory.org/essays/menkes.shtml

Medical Essays : Menkes syndrome Author: A Ioannides Genetics and background about Menkes disease Michael M was a young boy who died from rupture of the aorta. His mother reported that older male relatives of hers had also died young. From the information given by the parents we constructed the following genealogical tree, by deducing that females must be carriers of a disease which is X-linked. Michael was clearly affected by an X-linked recessive gene from his mother's side, since the condition appears to be inherited only from mother to son and asymptomatic females gave birth to affected males. Symptoms included short, tangled, fragile hair, mental retardation, weight and height below average, convulsive seizures and frequently broken limbs. His plasma copper was found to be at least 5 -fold below average and although CuSO4 was given orally, his plasma copper did not rise indicating a problem in copper transport from the gut to the blood and not a nutritional deficiency of copper. The symptoms, the disturbances in copper absorption and the pattern of inheritance are enough to provide striking evidence that Michael suffered from Menkes syndrome or Kinky hair disease (MKHD). In MKHD Cu accumulates in intestine and kidneys and is low in blood, liver and brain. It is due to mutations of the gene ATP7A which encodes P type ATPase that transports copper. Recent studies on Menkes disease focusing on Cu transport in the cells show a large amount of Cu accumulating in the organelle-free cytoplasm whereas mitochondria are Cu deficient.

5. Enter Here Information about Menkes Kinky Hair Syndrome through the experiences of a family from birth to diagnosis and ultimately death. http://www.menkessyndrome.com/

Entrance Home Friends Pictures Important Links ... Contact Me Learn about Menkes Kinky Hair Syndrome through the experiences of Justin Gordon and Family Taken March 6, 2002. Internet Explorer 6 Now, you are finally ready to enter my site. Please take your time to see all the pictures, read all the info and visit all the links, and don't forget to sign my guestbook. Enter This Site You are visitor number since October 25, 2001 THIS PAGE LAST UPDATED ON MAY 13, 2004

6. HealthCentral - General Encyclopedia - Menkes Syndrome No truly effective treatment is available for menkes syndrome. Injection of copper has been used with mixed results have a family history of menkes syndrome and you plan to have http://www.healthcentral.com/mhc/top/001160.cfm

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7. OMIM - MENKES DISEASE In depth look including clinical and biochemical features, molecular genetics, diagnosis, clinical management and references. http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309400

8. Menkes Syndrome - Disease menkes syndrome Disease. Donations Fundraisers Research News Carter's Story Our Mission To Aid Researchers Financially In Finding a Cure For Menkes (Learn More) http://www.menkesfoundation.org/

Menkes Syndrome - Disease Donations Fundraisers Research News ... Contact Our Mission: To Aid Researchers Financially In Finding a Cure For Menkes ( Learn More Every dollar you donate is nearly doubled when funding research. Research is based in Australia and one American dollar is equivalent to 1.83 Australian dollars. Enter the amount you wish to donate US currency Current Funds Raised As Of : © 2001, 2002 Menkes Foundation of Hope Phone:

9. Menkes Syndrome OMIM catalog of human genes and disorders. Search. This book All books PubMed. Genes and Disease PDF Document Nutritional and Metabolic Diseases menkes syndrome http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.sect

10. Redirect An in depth look at this syndrome starting with alternate names. Clinical features, diagnosis and clinical management are a few to the topics covered. http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?309400

11. AllRefer Health - Menkes Syndrome (Kinky Hair Disease, Menkes Kinky Hair Syndrom menkes syndrome (Kinky Hair Disease, Menkes Kinky Hair Syndrome, Steely Hair Disease) information center covers causes, prevention, symptoms, diagnosis http://health.allrefer.com/health/menkes-syndrome-info.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia You are here : AllRefer.com Health Menkes Syndrome Menkes Syndrome Definition Prevention Treatment Expectations or Prognosis ... Go To Main Page Alternate Names : Kinky Hair Disease, Menkes Kinky Hair Syndrome, Steely Hair Disease Definition Menkes syndrome is an inherited disorder that results in problems in multiple parts of the body due to cells not having enough copper. Hypotonia 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. Previous Top Next Jump to another section Definition Menkes Syndrome Prevention Menkes Syndrome Treatment Menkes Syndrome Prognosis ... Calling Your Health Care Provider Topics that might be of interest to you Ceruloplasmin Skull X-Ray X-Ray - Skeleton Other Topics Hypothermia Hypotonia Seizures Review Date : 8/19/2003 Reviewed By : Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

12. AllRefer Health - Menkes Syndrome Diagnosis & Tests (Kinky Hair Disease, Menkes menkes syndrome (Kinky Hair Disease, Menkes Kinky Hair Syndrome, Steely Hair Disease) information center covers Diagnosis Tests. menkes syndrome. http://health.allrefer.com/health/menkes-syndrome-diagnosis-tests.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia You are here : AllRefer.com Health Menkes Syndrome Menkes Syndrome Definition Prevention Treatment Expectations or Prognosis ... Go To Main Page Alternate Names : Kinky Hair Disease, Menkes Kinky Hair Syndrome, Steely Hair Disease There is often a history of Menkes syndrome in a male relative. Signs include slow growth in the womb, abnormally low body temperature, bleeding in the brain and abnormal appearance of the hair under the microscope. Males will have all of their hairs show abnormal structure but females who are carriers of this trait may show only half the hairs to be abnormal. The following tests may help diagnose the condition: X-ray of the skeleton or x-ray of the skull may show abnormal bone appearance (Wormian bones and metaphyseal widening) Serum copper level may be low Copper level in cultured skin cells (fibroblasts) is elevated up to 5 times normal level Serum ceruloplasmin level may be low Microscope examination of the hair may show breaks at regular intervals Plasma amino acids may show elevated glutamate Genetic testing may show mutation in the ATP7A gene

13. Copper - Vitamins, Minerals And Herbs Explains about copper, sources, deficiency, supplements and menkes syndrome. http://www.satisfied-mind.com/drugstore/copper.htm

Copper Vitamins Minerals Herbs Personal Hygiene ... Mother and Baby What does copper do? Where is copper found? The best source of copper is oysters. Nuts, dried legumes, cereals, potatoes, vegetables, and meat also contain copper. Who is likely to be copper deficient? How much copper is usually taken? Are there any side effects or interactions? Information on this site is provided for informational purposes and is not meant to substitute for the advice provided by a licensed physician. You should not use the information on this website for diagnosing or treating a health problem or disease, or prescribing any medication.

14. AllRefer Health - Menkes Syndrome (Kinky Hair Disease, Menkes Kinky Hair Syndrom menkes syndrome (Kinky Hair Disease, Menkes Kinky Hair Syndrome, Steely Hair Disease) information center covers causes, prevention, symptoms, diagnosis, treatment, incidence, risk factors, signs, http://www.1uphealth.com/health/menkes_syndrome_info.html

AllRefer Channels :: Yellow Pages Reference Health Home ... Contact Us Quick Jump ADD/ADHD Allergies Alzheimer's Disease Arthritis Asthma Back Pain Breast Cancer Cancer Colon Cancer Depression Diabetes Gallbladder Disease Heart Attack Hepatitis High Cholesterol HIV/AIDS Hypertension Lung Cancer Menopause Migraines/Headaches Osteoporosis Pneumonia Prostate Cancer SARS Stroke Urinary Tract Infection 1600+ More Conditions Alternative Medicine Health News Symptoms Guide Special Topics ... Medical Encyclopedia You are here : AllRefer.com Health Menkes Syndrome Menkes Syndrome Definition Prevention Treatment Expectations or Prognosis ... Go To Main Page Alternate Names : Kinky Hair Disease, Menkes Kinky Hair Syndrome, Steely Hair Disease Definition Menkes syndrome is an inherited disorder that results in problems in multiple parts of the body due to cells not having enough copper. Hypotonia 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. Previous Top Next Jump to another section Definition Menkes Syndrome Prevention Menkes Syndrome Treatment Menkes Syndrome Prognosis ... Calling Your Health Care Provider Topics that might be of interest to you Ceruloplasmin Skull X-Ray X-Ray - Skeleton Other Topics Hypothermia Hypotonia Seizures Review Date : 8/19/2003 Reviewed By : Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

15. Medical Encyclopedia: Menkes Syndrome (Print Version) Medical Encyclopedia menkes syndrome. Causes, incidence, and risk factors. menkes syndrome is inherited as an Xlinked recessive disorder. http://www.nlm.nih.gov/medlineplus/print/ency/article/001160.htm

To print this page, use the print option from your browser. To close this window, click on the "x" in the upper right hand corner of the window. Medical Encyclopedia: Menkes syndrome URL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/001160.htm Alternative names Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease Definition Menkes syndrome is an inherited disorder that results in problems in multiple parts of the body due to cells not having enough copper. Causes, incidence, and risk factors 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. Symptoms Pudgy, rosy cheeks Floppy baby (hypotonia) Irritability Seizures Brittle, kinky hair Feeding difficulties Low body temperature Bone spurs Signs and tests There is often a history of Menkes syndrome in a male relative. Signs include slow growth in the womb, abnormally low body temperature, bleeding in the brain and abnormal appearance of the hair under the microscope. Males will have all of their hairs show abnormal structure but females who are carriers of this trait may show only half the hairs to be abnormal.

16. Menkes Syndrome - Medical Dictionary Definitions Of Popular Medical Terms MedicineNet Home MedTerms medical dictionary AZ List menkes syndrome. Advanced Search. http://www.medterms.com/script/main/art.asp?articlekey=11653&rd=1

17. Menkes Syndrome Selected medical images OMIM menkes syndrome. A child with kinky hair; Menkes’ disease (trichopoliodystrophy); Menke s Kinky Hair Disease; menkes syndrome. http://www.gfmer.ch/Genetic_diseases/Menkes_syndrome/Menkes.htm

Selected medical images OMIM Menkes syndrome A child with kinky hair Menkes’ disease (trichopoliodystrophy) Menke's Kinky Hair Disease Menkes syndrome Sources Canadian Medical Association Journal Eurorad National Center for Biotechnology Information (US) University of Alabama School of Medicine (US) ... Print this page Edited by Aldo Campana, August 13, 2003

18. ORPHANET - Rare Diseases - Orphan Drugs Printing version, DISEASE menkes syndrome, Synonym(s) Kinky hair syndrome, ICD E83.0, Menkes disease is linked to mutations of a gene http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=565

19. LookSmart - Directory - Menkes Syndrome Or Kinky Hair Syndrome menkes syndrome or Kinky Hair Syndrome Resources on the causes, symptoms, signs, diagnosis and treatment of this condition. Includes support groups. http://search.looksmart.com/p/browse/us1/us317837/us317920/us53948/us330917/us27

@import url(/css/us/style.css); @import url(/css/us/searchResult1.css); Home IN the directory this category YOU ARE HERE Home Personal Health Menkes Syndrome or Kinky Hair Syndrome - Resources on the causes, symptoms, signs, diagnosis and treatment of this condition. Includes support groups. Directory Listings About allRefer Health - Menkes Syndrome Information Peruse the signs, diagnosis, symptoms, causes, complications, support groups, and treatment of the inherited copper metabolism disorder, aka Menkes kinky hair syndrome. MEDLINEplus - Menkes Syndrome Profiles this syndrome, also known as kinky hair disease, with links to related topics. Michel Perron - Menke's Syndrome Learn who is most commonly afflicted by kinky hair disease and the signs and symptoms of the ailment. National Centre for Biotechnology Information - Menkes Syndrome Clinical description of the genetic disorder that is characterized by peculiar hair and neurological impairment. Discusses various treatments. NCBI Genes and Disease - Menkes Syndrome Learn about this inborn error of metabolism that markedly decreases the cells' ability to absorb copper. Often diagnosed by looking at the hair. NINDS - Menkes Disease National Institute of Neurological Disorders and Stroke provides an overview of the disease, including its symptoms, and treatment options.

20. Menkes' Syndrome infarction and increased extracerebral fluid collections (Fig.1). On cerebral angiography there is tortuosity of cerebral vessels (Fig.2). See menkes syndrome. http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/MENKES SYNDROME.

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Menkes' syndrome, (John H. Menkes, born 1928, American neurologist) (also called kinky hair syndrome), an X-linked recessive inherited disease in which a defect in copper metabolism leads to accumulation of copper as copper methallothionein in organs, particularly in the brain, liver and heart. Clinically, the children present with abnormal hair development in which the hair is twisted, short, sparse and stubby, developmental regression with seizures, and a low level of copper and ceruloplasmin in the plasma and urine. There is severe failure to thrive. The disease is progressive. Radiologically, there is osteoporosis with metaphyseal spurs in the long bones in infants which, if they survive, may progress to diaphyseal reaction in the long bones. There is microcephaly, delayed myelination demonstrated on MRI, infarction and increased extracerebral fluid collections ( Fig.1

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