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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

21. Menkes' Syndrome
N, O, P, Q, R, S, T, U, V, W, X, Y, Z, Other characters, Menkes syndrome,. Print this article, (John H. Menkes, 20th century, American physician), see kinky hair syndrome.
http://www.amershamhealth.com/medcyclopaedia/Volume III 1/MENKES SYNDROME.asp
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, 20th century, American physician), see kinky hair syndrome
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The Encyclopaedia of Medical Imaging Volume III:1 Contacts GE Healthcare Making Waves

22. Menkes Syndrome
Diseases, Conditions and Injuries. menkes syndrome. Definition. menkes syndrome is an inherited genetic disorder due to an abnormal gene, ATP7A.
http://www.somersetmedicalcenter.com/1594.cfm
Community Advisor Search Send to a friend Home  Diseases, Conditions and Injuries
Menkes Syndrome
(Kinky Hair Disease, Steely Hair Disease, Trichopoliodystrophy, X-linked Copper Deficiency, Copper Transport Disease)
by Michelle Badash, MS Definition Causes Risk Factors ... Organizations
Definition
Menkes syndrome is an inherited genetic disorder due to an abnormal gene, ATP7A. Menkes syndrome causes impaired copper absorption. This results in arterial changes and deterioration of the brain. Menkes syndrome is rare. It occurs in 1 out of every 50,000-100,000 births. It affects primarily males. Most children born with Menkes syndrome have a life expectancy of 3-5 years.
Causes
Copper proteins are necessary for the body to build bone, nerves, and other tissue. Babies with Menkes syndrome have a genetic disorder that causes copper to build up in excess amounts in the kidney, while remaining deficient in the liver and brain. This causes changes in the hair, brain, bones, liver, and arteries.
Risk Factors
A risk factor is something that increases your chances of getting a disease or condition. Risk factors for Menkes syndrome include:
  • Sex: Male Family members with Menkes syndrome
Symptoms
Children with Menkes are often born prematurely. Symptoms usually begin to show within three months after birth, and may include:

23. Nutrition And Metabolism Disorders, Vitamins And Minerals, Menkes' Syndrome
menkes syndrome A definition and a look at the epidemiology, pathophysiology, clinical manifestations, diagnosis, treatment, prognosis and reference.
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  • 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.

24. Menkes Syndrome - Genetics Home Reference
menkes syndrome. What is menkes syndrome? menkes syndrome is a disorder that affects copper levels within the body. How common is menkes syndrome?
http://ghr.nlm.nih.gov/condition=menkessyndrome
A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Menkes syndrome
Menkes syndrome
What is Menkes syndrome?
Menkes syndrome is a disorder that affects copper levels within the body. It is characterized by peculiar hair, growth failure, and deterioration of the nervous system. A mild form of Menkes syndrome is known as occipital horn syndrome (sometimes called X-linked cutis laxa).
How common is Menkes syndrome?
The estimated incidence of Menkes syndrome is 1 in 250,000 live births.
What genes are related to Menkes syndrome?
Mutations in the gene cause Menkes syndrome. As the result of a mutation in the ATP7A gene, copper is poorly distributed to cells in the body. Copper accumulates in some tissues, such as the small intestines and kidneys, while the brain and other tissues have unusually low levels. The decreased supply of copper can reduce the activity of numerous copper-containing enzymes that are necessary for the structure and function of bone, skin, hair, blood vessels, and the nervous system.
How do people inherit Menkes syndrome?

25. Menkes Syndrome - MedlinePlus - Health Information - Genetics Home Reference
menkes syndrome. Back to condition summary. menkes syndrome. MedlinePlus Health Information. These resources supplement the information
http://ghr.nlm.nih.gov/condition=menkessyndrome/show/MedlinePlus
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Menkes syndrome
MedlinePlus - Health Information
These resources supplement the information in the Genetics Home Reference condition summary on Menkes syndrome. Last Comprehensive Review: February 2004 Updated: April 21, 2004 Published: May 28, 2004 This is a page from Genetics Home Reference Contact Us Lister Hill National Center for Biomedical Communications U.S. National Library of Medicine ... Accessibility

26. Menkes Syndrome By Michel Perron
menkes syndrome by Michel Perron menkes syndrome has been found to be a genetically inherited 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.

27. ► Menkes Syndrome
Home Medical Reference Encyclopedia (English) Toggle English / Spanish menkes syndrome. menkes syndrome is inherited as an Xlinked recessive disorder.
http://www.umm.edu/ency/article/001160.htm
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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.
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28. ► Menkes Syndrome
Home Medical Reference Encyclopedia (English) Toggle English / Spanish menkes syndrome. There is often a history of menkes syndrome in a male relative.
http://www.umm.edu/ency/article/001160sym.htm
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Menkes syndrome
Overview Symptoms Treatment Prevention Alternative Names: Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease
Symptoms:
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 100% of their hairs show abnormal structure but carrier-females may show only half the hairs to be abnormal.
Tests:
  • 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 up to 5 times elevated 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

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.

29. Disease Directory : Nutrition And Metabolism Disorders : Vitamins And Minerals :
..menkes syndrome syndrome. ABSTRACT. menkes syndrome is an X-linked recessive disorder with a defect in the intestinal absorption of copper.
http://www.diseasedirectory.net/Nutrition_and_Metabolism_Disorders/Vitamins_and_
Wednesday, June 02, 2004 Nutrition and Metabolism Disorders Vitamins and Minerals
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Deficiency, Dependency and Toxicity
... Vitamins and Minerals : Menkes' Syndrome

30. Menkes’ Disease, Menkes' Syndrome
Menkes’ Disease. Also indexed as Menkes Syndrome. 6. Kaler SG. Diagnosis and therapy of menkes syndrome, a genetic form of copper deficiency.
http://www.truestarhealth.com/Notes/1237000.html
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Gift of Health Hi ! Welcome to Truestar Health. Log In Welcome to the Truestar Health Encyclopedia Welcome to the Truestar Health Encyclopedia –the most comprehensive information database available on health, wellness, food, nutrition, vitamins and supplements. Use of our encyclopedia will enable you to make well-informed, responsible decisions for the promotion of your own health and wellness. Enter search items 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. Rating Nutritional Supplements Herbs Copper (injectable) Reliable and relatively consistent scientific data showing a substantial health benefit.

31. Your Health - Menkes Syndrome
menkes syndrome. Definition. menkes syndrome is an inherited genetic disorder due to an abnormal gene, ATP7A. menkes syndrome causes impaired copper absorption.
http://www.aurorahealthcare.org/yourhealth/healthgate/getcontent.asp?URLhealthga

32. 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.

33. Short Description Of Cell Lines. Pathology: Menkes Syndrome #309400
Version 4.200205, Short description of cell lines. Pathology menkes syndrome 309400 OMIM record. By selecting the cell line name
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34. Disease - Menkes Syndrome - Hartford, Connecticut , Saint Francis Care
Disease menkes syndrome - courtesy of Saint Francis Care of Hartford, Connecticut, contemporary medicine with major clinical concentrations in heart disease
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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

35. Site Map 33: Saint Francis Care Of Hartford, Connecticut
Disease menkes syndrome Disease - Menopause Disease - Mental retardation Disease - Mesangial proliferative glomerulonephritis Disease - Mesenteric artery
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36. DermIS / Main Menu / DOIA / Menkes Syndrome / Info
// information on the diagnosis menkes syndrome . definition. An Xlinked inherited Do YOU suffer from menkes syndrome ? If you are a
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37. DermIS / Main Menu / PeDOIA / Table Of Contents / 9 Disorders of Hair and N
/ table of contents / 9 Disorders of Hair and Nails / 9.1 Hair / 9.1.3 Hair Shaft Abnormalities / 9.1.3.1 menkes syndrome. Do YOU suffer from menkes syndrome ?
http://dermis.multimedica.de/doia/diagnose.asp?zugr=p&lang=e&diagnr=9145&topic=i

38. Nutrition And Metabolism Disorders: Vitamins And Minerals: Menkes' Syndrome
Nutrition and Metabolism Disorders Vitamins and Minerals Menkes Syndrome. Kinky Hair Synd menkes syndrome. A definition and
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A definition and a look at the epidemiology, pathophysiology, clinical manifestations, diagnosis, treatment, prognosis and reference.
Menkes Syndrome
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39. :: Ez2Find :: Menkes' Syndrome
menkes syndrome Site Info - Translate - Open New Window In depth look at this disease including the following, description, clinical features
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40. Menkes Disease
menkes syndrome, GeneReviews; menkes syndrome, National Center for Biotechnology Information, (NCBI) Genes and Disease Webpage, US National Library of Medicine;
http://www.kumc.edu/gec/support/menkes.html
Menkes disease
(copper transport disorder, copper overload, kinky hair syndrome)
Corporation for Menkes Disease
5720 Buckfield Court Fort Wayne, IN 46804 Phone: 219.436.0137 Email: j1@home.com
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