Menkes Syndrome A definition and a look at the epidemiology, pathophysiology, clinical manifestations,diagnosis, treatment, prognosis and reference. http://www.dpo.uab.edu/~birmie/menkes.htm
Extractions: 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
Menkes Syndrome Discussion of a case including the inheritance pattern and the biochemical changes. http://www.themedicaldirectory.org/essays/menkes.shtml
Extractions: Author: A Ioannides 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. 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.
OMIM - MENKES DISEASE In depth look including clinical and biochemical features, molecular genetics,diagnosis, clinical management and references. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309400
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
Menkes Syndrome menkes syndrome Alternative Names steely hair disease; Menkes kinky hair syndrome; kinky hair disease Definition An inherited disorder that http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Menkes Syndrome Genes and disease provides short descriptions of inherited disorders. It is hostedby the National Center for Biotechnology Information (NCBI), http://www.ncbi.nlm.nih.gov/disease/Menkes.html
Extractions: 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.
Copper Explains about copper, sources, deficiency, supplements and menkes syndrome. http://www.satisfied-mind.com/drugstore/copper.htm
Extractions: Copper Vitamins Minerals Herbs Personal Hygiene ... Mother and Baby The best source of copper is oysters. Nuts, dried legumes, cereals, potatoes, vegetables, and meat also contain copper. 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.
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 http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Extractions: First of all, please note the song you are hearing is "Those were the days" which was the theme song from All in the Family. Justin is a huge Nick at Nite buff and always perks up when this song is played. I have it set up to play continuously, but you may turn it off by scrolling to the bottom of the page and hitting the stop button on the small windows media player. Well, I honestly don't know where to start. My name is Dani. I am married to Keith. We have Dionna, who is 12, and, of course, Justin, who turned 3 on May 4, 2002. I hope to provide some insight and even maybe a little comfort to those of you who are what I call "newly diagnosed parents." I remember how many questions I had and how scary it was that there was not even many doctors in the U.S. who have seen this syndrome so I hope to answer some questions for you.
Menkes Kinky-hair Syndrome a CHORUS notecard document about Menkes kinkyhair syndrome http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Menkes Syndrome - Genetics Home Reference What is menkes syndrome? menkes syndrome is a disorder that affects copper levels within the body. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Extractions: 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 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.
Justin Gordon And Menkes Syndrome Information about Menkes Kinky Hair Syndrome through the experiences of a family from birth to diagnosis and ultimately death. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Extractions: 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 Alternate Names : Kinky Hair Disease, Menkes Kinky Hair Syndrome, Steely Hair Disease Menkes Syndrome 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.
Menkes Syndrome - Genetics Home Reference Where can I find additional information about menkes syndrome? What if Istill have specific questions about menkes syndrome? http://ghr.nlm.nih.gov/condition=menkessyndrome
Extractions: Home What's New Browse Handbook ... Search Menkes syndrome On this page: Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by sparse and coarse hair, growth failure, and deterioration of the nervous system. Onset of Menkes syndrome typically begins during infancy. Signs and symptoms of this disorder include weak muscle tone (hypotonia), sagging facial features, seizures, mental retardation, and developmental delay. In rare cases, symptoms begin later in childhood and are less severe. Occipital horn syndrome (sometimes called X-linked cutis laxa), is a mild form of Menkes syndrome that begins in early to middle childhood. It is characterized by calcium deposits in a bone at the base of the skull (occipital bone), coarse hair, and loose skin and joints.
Menkes Syndrome - Disease menkes syndrome Disease Donations Fundraisers Research News Carter's Story Contact http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Extractions: Home What's New Browse Handbook ... Search Menkes syndrome These resources supplement the information in the Genetics Home Reference condition summary on Menkes syndrome. Last Comprehensive Review: March 2005 Published: September 6, 2005 Contact NLM Customer Service Lister Hill National Center for Biomedical Communications ... Selection Criteria for Web Links Indicates a page outside Genetics Home Reference.
