In 1962, a doctor named john menkes and his colleagues at columbia university in new york published a scientific article about five male infants with a distinctive genetic syndrome. Menkes disease uf health, university of florida health. In females who have two x chromosomes, a mutation would have to occur in both copies of the gene. Occipital horn syndrome is one of the less severe forms of menkes syndrome that begins in early to middle childhood.
Children with menkes syndrome typically begin to develop symptoms during infancy and often do not live past age 3. Alterations in copper and collagen metabolism in the menkes syndrome and a new subtype of the ehlersdanlos syndrome. The gene associated with this condition is located on the x chromosome, which is one of the two sex chromosomes. Xlinked means that the gene for the condition is located on the x chromosome, one of the sex chromosomes. Menkes disease is the result of defects in the ptype atpase protein that is responsible for the translocation of copper across the intestinal basolateral membrane into the. This kind of gene inheritance is called xlinked recessive. This syndrome, now known as menkes disease, menkes kinky hair disease or menkes syndrome, has been identified as a disorder of copper metabolism in the body. Menkes disease nord national organization for rare. Menkes disease is inherited in an xlinked recessive pattern and mainly affects boys. Menkes is a lethal, xlinked, multisystemic, progressive disorder of copper metabolism that causes severe epilepsy, developmental delay, hypotonia, failure to.
Cell culture studies in phenotypically normal female menkes carriers indicated that the menkes disease gene mnk was subject to random xinactivation, also supporting an x linked. His hair is depigmented and lusterless with pili torti and the skin is pale with eczema. Menkes disease md is an xlinked multisystemic lethal disorder of copper metabolism. Menkes disease is so named because it was originally described in 1962 by dr. Menkes disease also known as menkes syndrome, copper transport disease, steely hair disease, kinky hair disease, menkes kinky hair syndrome is a genetic xlinked recessive disorder that causes copper deficiency due to mutations in atp7a protein gene and leads to neurodegeneration description of menkes disease. Similar splicesite mutation s of atp7a gene lead to different phenotypes. Menkes disease medical definition merriamwebster medical. Mar 30, 2020 menkes disease is inherited in an xlinked recessive pattern and mainly affects boys. The disease results from a mutation in atp7a, which is a copper efflux protein in the intestines. Dec 10, 2019 milder variants of menkes disease, including occipital horn syndrome also known as xlinked cutis laxa or ehlersdanlos type 9 have also been described. Low copper levels lead to impaired function of copperdependent enzymes, importantly impairing collagen crosslinking by the. Mednik syndrome has been shown to create a defect in copper metabolism.
Menkes syndrome definition of menkes syndrome by the. Copper dependency in humans is most dramatically illustrated in menkes disease, an x linked recessive copper deficiency disorder that is generally lethal in early childhood. The life expectancy of the child or patient is 3 to years of age. Diverticula of the bladder in a boy with menkes disease. Menkes disease is an xlinked recessive disorder of copper transport. Menkes disease causes, symptoms, diagnosis, treatment. Menkes disease causes, symptoms, treatment, life expectancy.
As a result, low blood copper levels are observed, but intestinal copper buildup can be seen. In females who have two x chromosomes, a mutation would have to. It is not intended to be and should not be interpreted as medical advice or a diagnosis of any health or fitness problem, condition or disease. Genedx 207 perry parkway gaithersburg, md 20877 toll free. Menkes syndrome is an xlinked genetic copper deficiency that is usually fatal in early childhood. If the disorder is recognized early, injections of copper have been sometimes beneficial. This results in changes in the arteries and deterioration of the brain. Dermatologic manifestations of menkes kinky hair disease. Menkes disease md is a very rare hereditary multisystemic disorder of copper metabolism with an xlinked recessive inheritance. Milder variants of menkes disease, including occipital horn syndrome also known as xlinked cutis laxa or ehlersdanlos type 9 have also been described. Sep 07, 2018 females are carriers of menkes syndrome, and their sons who have the gene have the disease. It is an xlinked recessive disorder, and is therefore.
It is a recessive, sexlinked disorder on the x chromosome, meaning that men are more likely to develop it than women, while women are more likely to be asymptomatic carriers. Menkes syndrome is usually inherited, which means it runs in families. Menkes disease is a rare neurodegenerative disorder due to an intracellular defect of a copper transport protein. Menkes syndrome, also called menkes disease or kinky hair disease, is a genetic disorder causing copper deficiency. Media in category menkes disease the following 8 files are in this category, out of 8 total. Babies with menkes syndrome have a genetic disorder that prevents the absorption of copper from the intestines. Most children born with menkes syndrome have a life expectancy of free. Apr 05, 2020 menkes syndrome, also called menkes disease or kinky hair disease, is a genetic disorder causing copper deficiency. The gene is on the xchromosome, so if a mother carries the defective gene, each of her sons has a 50% 1 in 2 chance of developing the disease, and 50% of her daughters will be a carrier of the disease.
Menkes disease, also known as trichopoliodystrophy or kinky hair kinky vessel syndrome, is an xlinked recessive disorder that results in a derangement in copper handling. In males who have only one x chromosome, one altered copy of the gene in each cell is sufficient to cause the condition. Menkes syndrome synonyms, menkes syndrome pronunciation, menkes syndrome translation, english dictionary definition of menkes syndrome. Here, we describe a completely workedup case of a 4monthold male infant with very typical history and radiological features confirmed by biochemical and trichoanalysis. Like all xlinked recessive conditions, menkes disease is more common in males.
Source national institutes of health nih ophanet, a consortium of european partners, currently defines a condition rare when it affects 1 person per 2,000. Learn the symptoms and treatments of menkes disease. Copper accumulates at abnormally low levels in the liver and brain, but at higher than normal levels in the kidney and intestinal lining. Menkes disease, also known as menkes kinky hair syndrome, is a congenital xlinked genetic disorder with an incidence of approximately evaluation and diagnosis of hair loss view in chinese cause hair fragility and excessive hair breakage include. Menkes disease nord national organization for rare disorders. Menkes disease mnk, also known as menkes syndrome, is an xlinked recessive disorder caused by mutations in genes coding for the coppertransport protein atp7a, leading to copper deficiency. Ppt menkes disease powerpoint presentation free to. The brindled mouse, viable brindled mouse, and blotchy mouse are animal models of the classic form, the mild form, and the occipital horn syndrome, respectively. Localisationofthemenkeslocus menkesdisease wasrecognisedto segregate as an xlinked recessive trait when it was first described in 1962 by menkes et al. Before mednik, the only two inherited copper metabolism disorders known were menkes disease and wilsons disease. Xlinked means that the gene for the condition is located on the xchromosome, one of the sex chromosomes.
Patients usually exhibit a severe clinical course, with death in early childhood, but variable forms exist and occipital horn syndrome ohs is the mildest form. A copper treatable menkes disease mutation associated with defective trafficking of a functional menkes copper atpase. This means that menkes disease, or a subtype of menkes disease, affects less than 200,000 people in the us population. Menkes disease is a disorder that affects copper levels in the body. Children with menkes syndrome typically begin to develop very severe symptoms during infancy, but, in some cases, the symptoms may begin later in childhood. Phenotypic overlap between menkes syndrome and the occipital horn syndrome 304150 is to be expected since both are caused by mutations in the atp7a gene 300011. Mutations of the mottled locus in mice produce a wide range of copperdeficient phenotypes that are good models for human diseases. Menkes disease is caused by a defective gene named atpta 1 that regulates the metabolism of copper in the body. Menkes disease definition of menkes disease by medical. Urological problems in patients with menkes disease. Menkes kinky hair disease is a rare xlinked recessive disease nearly exclusively affecting males who present at 23 months of age due to abnormal functioning of copperdependent enzymes due to deficiency of copper.
Peltonen l, kuivaniemi h, palotie a, horn n, kaitila i, kivirikko ki. It causes copper deficiency in the liver and brain, but excess amounts in the kidney. Menkes disease is also characterized by subnormal body temperature and strikingly peculiar hair, which is kinky, colorless or steelcolored, and breaks easily. Menkes disease md has also been reported as a potential mimic of aht.
The signs and symptoms of menkes syndrome and occipital horn syndrome are caused by the reduced activity of these coppercontaining enzymes. Menkes disease genetic and rare diseases information center. Copper proteins are necessary for the body to build bone, nerves, and other tissue. Menkes syndrome is an inherited genetic disorder due to an abnormal gene, atp7a. Flared metaphyses of the ulna and radius in a 5monthold patient with classic menkes disease. A group of symptoms that collectively indicate or characterize a disease, disorder, or other condition considered abnormal. Menkes disease mnk, also known as menkes syndrome, is an xlinked recessive disorder caused by mutations in genes coding for the coppertransport. Milder variants exist, including occipital horn syndrome, which is primarily a connective tissue disorder.
The gene associated with menkes syndrome is located on the x chromosome, which is one of the two sex. Menkes disease symptoms, diagnosis, treatments and causes. Arteries in the brain may be twisted with frayed and split inner walls. Variants of menkes that are caused by mutations in the atp7a gene but result in less severe symptoms include mild menkes disease and occipital horn syndrome. Menkes disease, an x linked recessive neurodegenerative disorder, results from a mutation in the gene coding for the copper transporting atpase atp7a. We describe a 7 months male patient who presented with seizures, hypoactivity and absence of visual contact.
In the classic form of menkes disease, patients have severe neurodegeneration, leading to death by 3 years of age. There is often extensive neurodegeneration in the gray matter of the brain. Menkes disease is an xlinked genetic disorder caused by mutations in the atp7a gene that is responsible for production of the atpase enzyme that regulates copper levels in the body. Roberts from the departments of paediatrics and histopathology, united norwich hospitals, norwich wheeler, e. Jun 30, 2019 menkes disease mnk, also known as menkes syndrome, is an xlinked recessive disorder caused by mutations in genes coding for the coppertransport.
The content on this site is presented in a summary fashion, and is intended to be used for educational and entertainment purposes only. Menkes disease genetic and rare diseases information. Characteristic findings include kinky hair, growth failure, and nervous system deterioration. Menkes syndrome symptoms, treatments and resources for. Menkes disease information page national institute of. The molecular and metabolic basis of inherited disease. It results in low copper levels and subsequently, deficiency in copperdependent mitochondrial enzymes. In females who have two x chromosomes, an alteration needs to occur in both copies of the gene to. The clinical phenotype is marked by fine silvery wiry hair, doughy skin, connective tissue disturbances, and progressive neurologic deterioration.
Menkes syndrome is inherited in an xlinked recessive pattern. Three unrelated cases of menkess syndrome are described. Metabolic and molecular bases of menkes disease and occipital horn syndrome. This is a disease which is detectable before birth in the prenatal care, it progressively degenerates a path that involves several organs of the body but mainly the brain. Menkes syndrome, also known as menkes kinky hair syndrome, menkes disease, and trichopoliodystrophy, is an xlinked recessive condition predominantly affects males characterized by profound neurologic, connective tissue, bone, bladder, and arterial abnormalities resulting from a mutation that leads to defective copper transport. Also known as kinky hair syndrome and copper transport disease. Menkes disease medigoo health medical tests and free. Menkes syndrome and animal models the american journal. A copper treatable menkes disease mutation associated with. Three unrelated cases of menkes s syndrome are described. In males who have only one x chromosome, one altered copy of the gene is enough to cause the condition.
Menkes disease is a genetic disorder in the body that affects the copper levels. This causes changes in the hair, brain, bones, liver, and arteries. The menkes foundation menkes, charitable organization. Md is caused by a defect in the atp7a gene, which encodes a. Menkes disease is inherited in an xlinked recessive pattern and. Menkes syndrome mnk, also known as menkes disease, copper transport disease, steely hair disease, kinky hair disease, or menkes kinky hair syndrome, is a disorder originally described by john hans menkes 19282008, which affects copper levels in the body, leading to copper deficiency. It results in low copper levels and subsequently, deficiency in copperdep. Jun 21, 2019 menkes disease mnk, also known as menkes syndrome, is an xlinked recessive disorder caused by mutations in genes coding for the coppertransport. Menkes syndrome definition of menkes syndrome by medical.
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