DermIS / Main Menu / DOIA / Menkes Syndrome / Info menkes syndrome / info. information on the diagnosis menkes syndrome If you are a patient with menkes syndrome , please complete our http://dermis.multimedica.de/doia/diagnose.asp?zugr=d&lang=e&diagnr=9145&topic=i
Menkes Syndrome Complete online version of The Encyclopaedia of Medical Imaging including textand images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/MENKES SYNDROME.
Extractions: financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com 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
Menkes Syndrome Complete online version of The Encyclopaedia of Medical Imaging including textand images from The Encyclopaedia of Medical Imaging s eight book volumes http://www.amershamhealth.com/medcyclopaedia/medical/Volume III 1/MENKES SYNDROM
Extractions: This Article Full Text (PDF) Purchase Article View Shopping Cart ... Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Request Permissions PubMed PubMed Citation Articles by Kaler, S. G. SG Kaler National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-1424, USA. sgk@box-s.nih.gov In the 25 y since copper deficiency was first delineated in persons with Menkes syndrome, advances in our understanding of the clinical, biochemical, and molecular aspects of this rare disorder have surpassed progress in the design of effective therapies. In contrast with purely nutritional copper deficiency, in which copper replacement can be curative, the nature of the basic defect in Menkes syndrome suggests that corrective efforts are likely to be more complicated, a point supported by the
Extractions: This Article Full Text (PDF) Purchase Article View Shopping Cart ... Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Request Permissions PubMed PubMed Citation Articles by Mercer, J. F. JF Mercer Scobie and Clare Mackinnon Trace Element Laboratory, Murdoch Institute, Royal Children's Hospital, Parkville, Victoria, Australia. jmercer@cryptic.rch.unimelb.edu.au Menkes syndrome is an X-linked genetic copper deficiency that is usually fatal in early childhood. Milder variants exist, including occipital horn syndrome, which is primarily a connective tissue disorder. Mutations of the mottled locus in mice produce a wide range of copper-deficient phenotypes that are good models for human diseases. Understanding the nature of the defects has been greatly increased as a result of the identification of the gene affected in Menkes syndrome. The gene spans approximately 140
Menkes Syndrome - Washington DC menkes syndrome Washington Hospital Center is located in Washington DC. http://www.whcenter.org/15169.cfm
Extractions: 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. 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. 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
Extractions: (link to Data Sheet) Strain Type Standard Supply B6.Cg- Mo-blo /J Repository-Cryopreserved. Please refer to the Supply Notes for further information. B6.Cg- Mo-pew2J /J Repository-Cryopreserved. Please refer to the Supply Notes for further information. B6.Cg- Mo-to /J Repository-Cryopreserved. Please refer to the Supply Notes for further information. B6Ei.Cg- Mo-blo /J Repository-Live. No age specifications accepted. Colony sized to produce minimal quantities (typically up to 6 mice) upon order receipt; one order per strain. Expected delivery: 1-3 months. Larger quantities or custom orders arranged upon request. C3H/HeJ- Mo-brJ /J Repository-Cryopreserved. Please refer to the Supply Notes for further information. Mo-br /J Repository-Live. No age specifications accepted. Colony sized to produce minimal quantities (typically up to 6 mice) upon order receipt; one order per strain. Expected delivery: 1-3 months. Larger quantities or custom orders arranged upon request.
Menkes Syndrome - Talk Medical Humanfriendly medical definition of menkes syndrome. http://www.talkmedical.com/medical-dictionary/9027/Menkes-Syndrome
Extractions: Tell a friend Menkes syndrome: A genetic disorder, also known as kinky hair syndrome, in which the hair is fragile and twisted ("kinky") and there is progressive deterioration of the brain and arterial changes leading to death in infancy. The condition is an inborn error of metabolism that markedly decreases the ability to absorb copper. It can often be diagnosed by looking at the person's hair, which appears to be both whitish and kinked when viewed under a microscope. The syndrome is inherited as an X-linked recessive disorder. Females with the gene on one of their two X chromosomes are normal carriers and each of their sons has a 50% risk of receiving that X and having the disease. The gene for the disease is located in chromosome region Xq12-q13.3. Menkes syndrome is characterized by early retardation in growth, the peculiar hair, and cerebral degeneration beginning within a month or two after birth and progressing rapidly to death in the first or second year of life. The hair is stubby and white. Microscopically it shows twisting, varying diameter along the length of the shaft, and often fractures of the shaft at regular intervals. The basic error underlying the disease involves a zinc-binding protein (ZBP). Because zinc and copper metabolism are interrelated, the error involving ZBP affects copper transport and results in a deficiency of copper, which is needed by enzymes involved in making bone, nerve and other key structures.
ATP7A (mutation described at genomic DNA level), menkes syndrome, 1. 13.7 kb incl ex814 (mutation described at genomic DNA level), menkes syndrome, 1 http://www.hgmd.cf.ac.uk/ac/ns/7/119395.html
Extractions: Gross deletions Coverage of mutations on this page is not comprehensive. Also, information marked as cDNA-based may not reflect the situation at the genomic level. We ask the scientific community to understand these interpretational problems and to help us by bringing any errors to our attention. Description Phenotype Reference 13.7 kb incl ex 6-9
Extractions: 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: CPT codes: 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). Please, contact UCGS personnel if you wish to discuss the specifics of your case or if you have any other questions.
Extractions: Vol. 137 No. 1, January 2001 Featured Link E-mail Alerts Correspondence Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Powell J Dawber RP ISI Web of Science (2) Contact me when this article is cited Is Kinky-Hair Disease a Misnomer for Menkes Syndrome? Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. Although we had the satisfaction of correctly diagnosing "Fragile Hair and Seizures in a Child" in your March issue, and were interested to read about it, we would like to add a little further information about the hair microscopy findings in Menkes syndrome. In his original article in 1962, John Menkes
Extractions: 3D Tour of the Vattikuti Institute About the Institute The Vattikuti Institute Prostatectomy Prostate Cancer ... Health Encyclopedia 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
Hazel Tank's Word Lists - Hows That Again? steelyhair syndrome seen in menkes syndrome; see kinky hair steeple sign seen on chest x-ray stiff-heart syndrome any cardiac disease characterized http://www.prenhall.com/medtransoriginal/wordlist/hows_that.htm
Extractions: Hazel Tank's Word Lists HOW'S THAT AGAIN? The following terms are legitimate; they all came straight from Dorland's Medical Dictionary , and a few other reliable medical resources. One could theoretically spend a lifetime researching the fanciful names given to diseases, syndromes and various signs and tests. I have included a few mini-definitions for clarity, and so the MT can cross reference and ensure that the dictator is talking about the same subject. For more complete research, the MT should consult a medical dictionary and/or the Merck Manual , depending on the amount of information wanted or needed. These terms pertain to both human and animal conditions. None of the following are named for the person who first described the phenomenon, nor are any of them trade names. It is certainly interesting how many human conditions are named for sports, whether or not incurred during sports activities. Some human symptoms are named for the various animal characteristics they resemble. Those that are actually veterinary terms are marked "(vet)." It seems that doctors are not immune to the American penchant for fanciful language. A B C D ... Z absence seizure – pronounced "ab-sonce"; patient more or less?"drops out" for a brief period, often seen in patients subject to seizures.
Rare Pediatric Disease Database WEBLINKS Justin Gorden and menkes syndrome Network http//www.menkessyndrome.com Awonderful family website for parents with a child with menkes syndrome. http://www.madisonsfoundation.org/content/3/1/display.asp?did=464
List Of Genetic Disorders: Information From Answers.com see menkes syndrome. menkes syndrome. Mental retardation with osteocartilaginousabnormalities see CoffinLowry syndrome. Metabolic Disorders http://www.answers.com/topic/list-of-genetic-disorders
Extractions: showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Wikipedia Mentioned In Or search: - The Web - Images - News - Blogs - Shopping list of genetic disorders Wikipedia list of genetic disorders The following is a list of genetic disorders and their origins. Beside most disorders is a code that indicates the type of mutation and the chromosome involved. Disorder Mutation Chromosome Angelman syndrome DCP Canavan disease Charcot-Marie-Tooth disease color blindness P X Cystic fibrosis P Down syndrome C haemophilia P X Joubert syndrome Klinefelter syndrome C X Neurofibromatosis Pelizaeus-Merzbacher disease phenylketonuria P Prader-Willi syndrome DC Spina bifida P Tay-Sachs disease P Turner syndrome C X
The Journal Of Urology - UserLogin Rare Urological Abnormalities in 2 Cases of Menkes Syndrome menkes syndrome (MS) is a rare inborn disorder of copper metabolism with Xlinked http://www.jurology.com/pt/re/juro/fulltext.00005392-200310000-00076.htm
Extractions: @import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Article Nature Genetics doi:10.1038/ng0193-20 Julian F. B. Mercer , Janie Livingston , Bryan Hall , Jennifer A. Paynter , Catherine Begy , Settara Chandrasekharappa , Paul Lockhart , Andrew Grimes , Mrinal Bhave , David Siemieniak Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109, USA Howard Hughes Medical Institute and Genome Center Sequencing Facility, University of Michigan, Ann Arbor, Michigan 48109, USA The Scobie and Claire MacKinnon Trace Element Laboratory, Murdoch Institute, Parkville Vic, Australia Correspondence should be addressed to T.W.G. PGK REFERENCES Pediatrics PubMed ISI ChemPort Danks, D.M.
Extractions: @import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Article Nature Genetics doi:10.1038/ng0193-7 Christopher Vulpe , Barbara Levinson , Susan Whitney , Seymour Packman Department of Biochemistry, University of California, San Francisco, California 94143, USA Department of Medicine, Howard Hughes Medical Institute, and the Division of Genetics, University of California, San Francisco, California 94143, USA Department of Pediatrics, University of California, San Francisco, California 94143, USA Correspondence should be addressed to S.P. REFERENCES Danks, D.M. in The Metabolic Basis of Inherited Disease van den Berg, G.J., et al . Muscle cell cultures in Menkes' disease: Copper accumulation in myotubes. J. Inher. metab. Dis. Packman, S. Regulation of copper metabolism in the Mottled mouse. Arch. Dermatol.
