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         Menkes Syndrome:     more detail
  1. Menkes Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-18
  2. Menkes syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Terri, MS, CGC Knutel, 2005
  3. The Angry Puppet Syndrome by John H. Menkes, 1999-09

1. Menkes Syndrome
A definition and a look at the epidemiology, pathophysiology, clinical manifestations, diagnosis, Category Health Conditions and Diseases Menkes Syndrome......MENKES DISEASE. AKA menkes syndrome, Kinky Hair Disease. Definition Menkessyndrome 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. 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.
    http://www.ncbi.nlm.nih.gov/disease/Menkes.html

    3. 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.
    http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?309400

    4. MEDLINEplus Medical Encyclopedia: Menkes Syndrome
    menkes syndrome. Causes, incidence, and risk factors Return to topmenkes syndrome is inherited as an Xlinked recessive disorder.
    http://www.nlm.nih.gov/medlineplus/ency/article/001160.htm
    Skip navigation
    Medical Encyclopedia
    Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z
    Menkes syndrome
    Contents of this page:
    Illustrations
    Hypotonia Alternative names Return to top Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease Definition Return to top 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 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. Symptoms Return to top Signs and tests Return to top 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 100% of their hairs show abnormal structure but carrier-females may show only half the hairs to be abnormal.

    5. Menkes Syndrome
    menkes syndrome Alternative Names steely hair disease; Menkes kinky hair syndrome;kinky hair disease Definition An inherited disorder that results in reduced
    http://www.geocities.com/Heartland/Grove/1590/menkes.html
    Menkes Syndrome
    Alternative Names
    steely hair disease; Menkes kinky hair syndrome; kinky hair disease
    Definition
    An inherited disorder that results in reduced absorption of copper
    from the intestines.
    Causes, incidence, and risk factors
    Menkes syndrome is inherited as an X-linked recessive disorder. The
    symptom is related to deficient levels of available copper.
    Symptoms include progressive mental deterioration, kinked or twisted
    brittle hair, and skeletal changes. Death usually occurs in the first few years of life. Symptoms pudgy, rosy cheeks floppy baby (hypotonia) irritability seizures brittle, kinky hair feeding difficulties low body temperature bone spurs Signs There is often a family history of Menkes syndrome. Tests: X-ray of the skeleton may show abnormal bone appearance (Wormian bones and metaphyseal widening) X-ray of the skull serum copper level serum ceruloplasmin level. Treatment No truly effective treatment is available for Menkes syndrome. Injection of copper has been used with mixed results. Present therapy consists of: copper acetate administered into a vein (intravenously) subcutaneous (injected under the skin) copper histidinate Complications Death usually occurs in the first few years of life.

    6. Menkes Syndromehttp//www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?309400 - Octo
    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.
    http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?309400

    7. Book Viewer
    Ataxia Gyrate Atrophy of the Choroid and Retina Huntington disease Immunodeficiencywith HyperIgM Marfan Syndrome menkes syndrome Multiple Endocrine Neoplasia
    http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowTOC&rid=gnd.TOC&dept

    8. Menkes Syndrome
    In depth look at this disease including the following, description, clinical features, biochemical and other features, molecular genetics, diagnosis and clinical management.
    http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?309400#DESCRIPTION

    9. 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.

    10. Menkes' Syndrome Resources On The Internet
    HealthCyclopedia, Menkes' Syndrome. Health News, Copper Explains aboutcopper, sources, deficiency, supplements and menkes syndrome.
    http://www.healthcyclopedia.com/menkes_syndrome.html

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    Copper - All about this trace mineral, deficiency and Menkes' Syndrome and its symptoms, safety issues, recommended intake and food sources. Copper - Explains about copper, sources, deficiency, supplements and 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 Disease - A look at the aetiology, pathology and the symptoms of this disease.

    11. MEDLINEplus Medical Encyclopedia: Topics Beginning With M-Mf
    Meningococcal septicemia see Meningococcemia; Meningococcemia; Meniscustears. Menkes kinky hair syndrome see menkes syndrome; Menkes
    http://www.nlm.nih.gov/medlineplus/ency/encyclopedia_M-Mf.htm
    Skip navigation
    Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z
    Medical Encyclopedia Topics beginning with "M-Mf"

    12. Critical Children Prayer List 1
    Age 5 months. menkes syndrome. Lance is not hospitalized at this time. Pleasepray for Lance. He has menkes syndrome and it is a terminal illness.
    http://www.geocities.com/EnchantedForest/Meadow/1111/critical_list1.html
    This is one list we really hate to see any names on but I know there are many out there that are sick with one disease or another, some may be in critical health, some may be terminal. We at ~On Angel Wings~ would really like to see their names here so that many people throughout the web community can be in prayer for these courageous children fighting for their very lives. Please won't you spread the word so that others may be listed here?
    Erin Mary O'Conner Age 13 Ependymoma brain stem tumor *Erin is not presently in a hospital *She would like to receive e-cards. *Her favorite color is green. *Erin loves angels! *Address all correspondance to: angelerin4@aol.com *Please pray that the tumor does not return for the fourth time. Erin is currently in a wheelchair as a result of a right side hemiparesis after her third surgery. We pray the surgeon was able to get all of the tumor and she can continue to recuperate from surgeries, chemotherapy, radiation - all that she has endured.
    Lance Locklear Age: 5 months Menkes Syndrome Lance is not hospitalized at this time.

    13. 1Up Health > Menkes Syndrome > Causes, Incidence, And Risk Factors Of Menkes Syn
    Comprehesive information on menkes syndrome (Kinky hair disease, Menkeskinky hair syndrome, Steely hair disease). Covers info such
    http://www.1uphealth.com/health/menkes_syndrome_info.html
    1Up Health Menkes syndrome Alternative Medicine Clinical Trials ... Health Topics A-Z Search 1Up Health Menkes syndrome Information Menkes syndrome Causes, Incidence, and Risk Factors Alternative names : Kinky hair disease, Menkes kinky hair syndrome, Steely hair disease Definition : 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 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.
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    14. 1Up Health > Menkes Syndrome (Kinky Hair Disease, Menkes Kinky Hair Syndrome, St
    Comprehesive information on menkes syndrome (Kinky hair disease, Menkes kinkyhair syndrome, Steely hair disease). menkes syndrome Information. Guide.
    http://www.1uphealth.com/health/menkes_syndrome.html
    1Up Health Alternative Medicine Clinical Trials Health News ... Health Topics A-Z Search 1Up Health Menkes syndrome Information Guide Alternative names : Kinky hair disease, Menkes kinky hair syndrome, Steely hair disease Definition : An inherited disorder that results in problems in multiple parts of the body due to cells not having enough copper.
    Jump to a Section of this Guide Definition
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    15. Menkes Syndrome By Michel Perron
    menkes syndrome by Michel Perron menkes syndrome has been found to be a geneticallyinherited disorder that primarily affects male infants and children
    http://www-personal.umd.umich.edu/~jcthomas/JCTHOMAS/1997 Case Studies/M. Perron
    Menkes Syndrome
    by Michel Perron
    enzyme condition due to decreased copper levels
    lysyl oxidase defect in elastin and collagen crosslinks
    leading to arterial abnormalities
    ascorbic acid oxidase skeletal defects similar to scurvy due to
    inadequate vitamin C production
    tyrosinase depigmentation of skin and hair
    cytochrome C oxidase hypothermia
    enzymes that form kinky hair
    disulfide bonds in keritin Due to decreased activity of copper based enzymes several phenotypes are common in individuals with Menkes syndrome. Most notably individuals develop whitish hair due to pili torti, monilethrix and trichorrhexis nodosa. Gradual cerebral and cerebellar degredation, major seizures, aberrant tortuous arteries, skeletal abnormalities and premature death are among the most serious effects of Menkes syndrome. There is currently no adaquate treatment for this genetic disease although it has been discovered that copper histidinate injections, if administered early enough, may prevent cerebral deterioration-due to its ability to cross the blood brain barrier- and hair discoloration and abnormalities. In the case with Mertha and Eliot D. son, Rick, a clear distinct link exists between the phenotypes described above and Ricks phenotypes- white hair, brain degeneration, artery abnormalities, bending of legs bones similar to scurvy. It is also evident that this disease was inherited from the mother due to signs of unusual twisting of her hair and because of the X-linked recessive inheritance pattern.

    16. Case Studies In Virtual Genetics 1996-1997
    Skin and Bones Acrocephalosyndactyly Eric Novak A Case Study of Epidermolysis BullosaBy Laurie S. Longe menkes syndrome by Michel Perron Osteopetrosis by
    http://www-personal.umd.umich.edu/~jcthomas/JCTHOMAS/1997 Case Studies/Intro cas
    Case Studies in Virtual Genetics
    Editor John C. Thomas
    e-mail: jcthomas@umd.umich.edu
    Amyliods
    Familial Mediterranean Fever Shane Cybart
    Fatal Familial Insomnia by: Ann M. Akroush

    Familial Creutzfeldt-Jakob Disease by Scott H. McMillan

    Skin and Bones
    Acrocephalosyndactyly Eric Novak
    A Case Study of Epidermolysis Bullosa By: Laurie S. Longe

    Menkes Syndrome by Michel Perron

    Osteopetrosis by Rami Khoury

    Sexual Identity Turner's Syndrome: A Case Study by: Carolyn Duda Gonadal Dysgenesis by Nichole E. Justus Placental Aromatase Deficiency by Jennifer Lynn Malto Psuedohermaphroditism by Kevin C Zebari Cancer Mutations Bloom Syndrome by Long Le Breast Cancer Susceptibility/BRCA I Gene by La Shawn Alexander Vestibular Schwannoma and the NF2 Gene Rebecca L. Bamford Cancer Other Acute Leukemia's Maram Haddad Multiple Endocrine Neoplasia Type 2 by Joy Yerman Neurofibromatosis Type Two by Sally Petrella Von Hippel-Lindau Disease by Jeff Allred Blood C2 Deficiency by Amy Pack Hemophilia A by: Julian Raffoul The Genetics of Von Willebrand Disease by Michael Alimario Factor XI Coagulation Defficiency by Marilynn Seman Immunology Adenosine Deaminase Deficiency by Chris Marting Protein C Deficiency by Drew Roby Purine nucleoside phosphorylase (PNP) deficiency by Jody L. Duke

    17. Menkes' Syndrome
    infarction and increased extracerebral fluid collections (Fig.1). On cerebral angiographythere is tortuosity of cerebral vessels (Fig.2). See menkes syndrome.
    http://www.amershamhealth.com/medcyclopaedia/Volume VII/Menkes syndrome.html
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    *For Medical Professionals only, registration required 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 (

    18. Menkes' Syndrome
    Menkes' syndrome,, Print this article, (John H. Menkes, 20th century,American physician), see kinky hair syndrome DR The Encyclopaedia
    http://www.amershamhealth.com/medcyclopaedia/Volume III 1/Menkes syndrome.html
    Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase.
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    *For Medical Professionals only, registration required Menkes' syndrome, (John H. Menkes, 20th century, American physician), see kinky hair syndrome
    DR
    The Encyclopaedia of Medical Imaging Volume III:1
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    19. Short Description Of Cell Lines. Pathology: Menkes Syndrome #309400
    Version 4.200205, Short description of cell lines. Pathology Menkessyndrome 309400 OMIM record. By selecting the cell line name
    http://www.biotech.ist.unige.it/cldb/pat113.html
    Version
    Short description of cell lines.
    Pathology: Menkes syndrome
    OMIM record
    By selecting the cell line name , you will receive the detailed description of the cell line
    By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines
    You can search any term of the list by using the 'Find' utility of your browser
    human, Caucasian
    amnion GEIMM
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    By Beatrice...

    20. MENKES SYNDROME (A CASE REPORT)
    menkes syndrome (A CASE REPORT). SH Hassanpoor Avanjy, MD 1 and M. Ghofrani, MD 2. Wedescribed the first case of menkes syndrome in an Iranian infant in Tehran.
    http://www.iums.ac.ir/journals/jiums/v6n3a1999/abs255.htm
    Vol. 6, No. 3, Autumn 1999
    Journal of Iran University of Medical Sciences
    IUMS ABSTRACTS Page 253 Page 254 Page 255 Page 256 Page 257 Page 258 Page 259 ... Page 261
    MENKES SYNDROME (A CASE REPORT)
    S. H. Hassanpoor Avanjy, MD and M. Ghofrani, MD
    ABSTRACT We described the first case of Menkes syndrome in an Iranian infant in Tehran. He was admitted for control of seizure and assessment of developmental delay in Mofid's Children Hospital in January 1997. Clinical symptomatologies all favored the diagnosis of Menkes disease which was confirmed by low serum copper and ceruloplasmin levels. Key Words:
  • Menkes disease Copper deficiency Copper metabolism Degenerative brain diseases Ceruloplasmin
  • 1) Assistant Professor of Pediatrics, Hazrat Aliasghar's Children Hospital, Iran University of Medical Sciences and Health Services, Zafar St., Tehran, Iran (Corresponding author) 2) Professor of Pediatric Neurology, Mofid's Children Hospital Shahid Beheshti University of Medical Sciences and Health Services, Tehran, Iran Last Update:

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