If the disorder is recognized early, injections of copper have been sometimes beneficial. Swartz5 menkes kinkyhair disease trichopoliodystrophy, steely hair disease is an xlinked neurodegenerative disorder that occurs predominantly in males. Genedx believes in responsible testing that is based on established medical guidelines, and we aim to be completely transparent with our pricing so that patients, clinicians, and payers know the cost of the test. Menkes disease rare diseases and genetic disorders inspire.
Diverticula of the bladder in a boy with menkes disease. Menkes disease is a rare multisystem xlinked disorder of copper metabolism. Pdf rahul ojha,1 asuri n prasad14 1department of pediatrics, 2section of pediatric neurology, 3division of clinical neurological sciences, 4child. Menkes syndrome is usually inherited, which means it.
Menkes disease is inherited in an xlinked recessive pattern and mainly. Menkes disease is named after the american physician john h menkes 19282008 7. 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. Neuroimaging changes in menkes disease, part 1 american. Menkes disease and occipital horn syndrome are characterized by copper deficiency.
Affected infants are often born prematurely and may have nonspecific symptoms such as hypothermia, hypoglycemia, and prolonged jaundice. Menkes disease md is caused by mutations in atp7a, encoding a coppertransporting ptype atpase which exhibits copperdependent. Neonatal diagnosis and treatment of menkes disease nejm. Atp7a inactivation results in systemic copper deficiency, especially in the cns. This kind of gene inheritance is called xlinked recessive. Menkes disease, copper metabolism, epilepsy, pili torti, cerebral degeneration introduction menkes disease md, also referred to as kinky hair disease, trichopoliodystrophy, and steely hair disease, is a rare xlinked recessive disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar kinky hair are the main. Menkes disease nord national organization for rare disorders. As a result, the brain and other parts of the body do not get enough copper, while it builds up in the small intestine and kidneys.
November is menkes awareness month, so today olga z. Menkes syndrome is inherited in an xlinked recessive pattern. Sep 18, 2008 menkes disease is an x linked disorder resulting in profound systemic copper deficiency. Menkes disease is caused by a defective gene named atpta 1 that regulates the metabolism of copper in the body. Mar 27, 2019 menkes disease is caused by a defective gene named atpta 1 that regulates the metabolism of copper in the body. Menkes disease md is a copper metabolism disorder that is caused by. Learn the symptoms and treatments of menkes disease. Brittle, kinky, steely, sparse, or tangled hair pudgy, rosy cheeks, sagging facial skin feeding difficulties irritability lack of muscle tone, floppiness. In females who have two x chromosomes, a mutation would have to occur in both copies. Clinical expression of menkes disease in females with normal. 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. The activity of menkes disease protein atp7a is essential for. Files are available under licenses specified on their description page.
Menkes syndrome is usually inherited, which means it runs in families. Atp7a gene addition to the choroid plexus results in long. It is characterized by sparse and coarse hair, growth failure, and deterioration of the nervous system. The defect makes it hard for the body to properly distribute transport copper throughout the body. All structured data from the file and property namespaces is available under the creative commons cc0 license.
Diagnosing the syndrome during the neonatal period is difficult. Like all xlinked recessive conditions, menkes disease is. Menkes disease may mimic nonaccidental trauma with retinal hemorrhage and bilateral subdural hematomas. Menkes disease is caused by a defect in the atp7a gene. Causes menkes disease is caused by a defect in the atp7a gene. Neonatal diagnosis and treatment of menkes disease. The clinical spectrum of menkes disease includes progressive neurodegeneration, connective tissue abnormalities and wiry brittle hair. The activity of menkes disease protein atp7a is essential. Pdf menkes disease is a fatal neurodegenerative disorder of infancy caused by diverse mutations in a coppertransport gene, atp7a. But given cu passes through the tissues to venous and lymph systems, or accumulate in the cells responsible for cu absorption. Gnidovec straiar menkes disease md is a rare genetic neurodegenerative disorder. Menkes disease md is an inherited condition that impacts the way the body processes copper levels in the body.
Impaired osteogenesis in menkes diseasederived induced. Menkes disease genetic and rare diseases information. We describe a 7 months male patient who presented with seizures, hypoactivity and absence of visual contact. Infants will lose, or fail to demonstrate, specific developmental milestones and failure to thrive. Learn about the origins of the disease, plus symptoms, diagnosis, and treatment options. Also known as kinky hair syndrome and copper transport disease. Characterization of atp7a missense mutants suggests a correlation. However, some female carriers show some signs related to menkes disease.
Copper accumulates at abnormally low levels in the liver and brain, but at higher than normal levels in. 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. Aka kinky hair syndrome, it is the impaired ability to metabolize copper. Instead, the gene defect is present at the time the baby is conceived.
Mar 30, 2020 menkes disease md is an inherited condition that impacts the way the body processes copper levels in the body. 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. It is caused by a mutation in the atp7a gene, which codes for the coppertransporting atpase in. Symptoms common symptoms of menkes disease in infants are. Clinical diagnosis can be confirmed by quantifying serum and urinary levels of copper, serum ceruloplasmin level and genetic study 5. In this study of 81 newborns at risk for menkes disease, a screening test indicating low dopamin. 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.
Menkes diseasea hypothesis with recommandations for. Menkes disease genetic and rare diseases information center. Menkes disease also called the kinky hair disease or menkes kinky hair syndrome is a disorder that affects copper levels in the body. This gene is located on the x chromosome, which means that the disease is passed from a mother to a son girls get two copies of the x chromosome, and the healthy copy of atp7a that they get from their fathers stops them from getting the disease. However, in md, not all tissues are copperdeficient.
Menkes disease information page national institute of. Menkes disease, also known as kinky hair disease, is an xlinked neurodegenerative disease of impaired copper transport. Dec 10, 2019 a girl with the menkes disease phenotype and an x. Hence, prudence is advised in always ruling out nat, particularly when other intracranial signs of menkes disease are not seen. Effective treatment has led to children surviving into adulthood. Disorders of copper homeostasis are currently recognized across. Menkes disease md is a degenerative disease, with an xlinked recessive inheritance, characterized by involvement of the nervous system due to an intracellular defect of the copper transport protein 15. Jan 22, 2012 menkes disease md mim 309400 is a rare xlinked recessive disorder, with an incidence of about 1.
Diagnostic copper imaging of menkes disease by synchrotron. In merged image, red line indicates isotype control and black tinted. Epilepsy is a major clinical feature of this disorder. Seizures were polymorphic, combining brief tonic seizures and bilateral.
Ideal sources for wikipedias health content are defined in the guideline wikipedia. Females are carriers of menkes syndrome, and their sons who have the gene have the disease. Imaging findings of menkes disease, a radiographic mimic of. Menkes disease is a fatal neurodegenerative disorder of infancy caused by. In males who have only one x chromosome, one altered copy of the gene in each cell is sufficient to cause the condition. The distinctive clinical features of menkes disease are usually present by 3 months of age. Menkes disease is an inherited disorder in which the body has a problem absorbing copper. Menkes disease and infantile epilepsy sciencedirect. Pdf neonatal diagnosis and treatment of menkes disease. Typical features of menkes disease result from low copperdependent. In females who have two x chromosomes, a mutation would have to occur in both copies of the gene. Menkes disease is caused by mutations in the gene atp7a.
The term incidence of menkes disease means the annual diagnosis rate, or the number of new cases of menkes disease diagnosed each year i. Md primarily affects the nervous system and connective tissue with symptoms that tend to get worse over time. Clinical expression of menkes disease in females with. Patients usually exhibit a severe clinical course, with death in early childhood, but variable forms exist. The menkes disease gene is atp7a encodes an enzyme p type atpase which is required for systemic absorbtion, distribution and metabolism of copper in tissues. Menkes disease md is an inherited xlinked recessive disorder that affects many systems in the body.
A ten minute documentary on menkes disease a rare fatal genetic disorder. Please note, for carriertargeted variant tests the approval status depends on whether the gene is in an approved genedx singlegene or multigene test. I need some information on what is the progression of the. Copper accumulates at abnormally low levels in the liver and brain, but at higher than normal levels in the kidney and intestinal lining. It is caused by a mutation in the atp7a gene, which codes for the coppertransporting atpase in the cell organelles. The word prevalence of menkes disease usually means the estimated population of people who are managing menkes disease at any given time i. 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. Onset of menkes syndrome typically begins during infancy. Here, we describe a completely workedup case of a 4monthold male infant with very typical history and radiological features confirmed by biochemical and trichoanalysis. The occipital horn syndrome is caused by mutation in the same gene. Progressive neurodegeneration and connective tissue.
Forgotten diseases research foundation menkes disease md. Menkes disease infants with profound lossoffunction atp7a mutations are particularly less likely to respond favorably to early copper treatment. It results in low copper levels and subsequently, deficiency in copperdependent mitochondrial enzymes. Yes are approved or conditionally approved by new york state and do not require an nys npl exemption. The defect makes it hard for the body to properly distribute transport copper. We describe the clinical presentation, evolution of epilepsy and explore the biological underpinnings of epileptogenesis in menkes disease. Recommandations for future research are given with special emphasis on the neuropathological aspects. Flared metaphyses of the ulna and radius in a 5monthold patient with classic menkes disease. Menkes disease nord national organization for rare. Sep 07, 2018 females are carriers of menkes syndrome, and their sons who have the gene have the disease. In brains of menkes disease md 6 patients, activity of copperdependent enzymes is decreased, and changes in myelination, energy metabolism, catecholamine balance, and mrna translation are evident. Menkes disease md is a lethal multisystemic disorder of copper metabolism. Menkes disease or kinky hair syndrome is a multisystemic disorder with an x linked inheritance, and mutation of the gene atp7a located on xq. Menkes disease md mim 309400 is a rare xlinked recessive disorder, with an incidence of about 1.
Porterfield will be contributing a post on the menkes syndrome. Subdural effusion is evident in the left frontal lesion. Menkes disease is a rare neurodegenerative disorder due to an intracellular defect of a copper transport protein. We describe a 7 months male patient who presented with seizures, hypoactivity and. Recent research in menkes disease has focused on a defective copper metabolism. Menkes disease is a fatal neurodegenerative disorder caused by mutations in a coppertransport gene. Menkes disease is so named because it was originally described in 1962 by dr. Aug 05, 2016 to date, most efforts in developing therapies for menkes disease have been directed toward increasing copper delivery to the cns. The trip database provides clinical publications about evidence. Characteristic findings include kinky hair, growth failure, and nervous system deterioration. Menkes disease, an x linked recessive neurodegenerative disorder, results from a mutation in the gene coding for the copper transporting atpase atp7a. Progressive neurodegeneration and connective tissue disturbances, together with. Ppt menkes disease powerpoint presentation free to.
Our work adds a new dimension to a complex set of consequences associated with atp7a inactivation. Menkes disease is a rare, often fatal neurodegenerative disease that affects the bodys ability to absorb copper. The gene associated with this condition is located on the x chromosome, which is one of the two sex chromosomes. Symptoms of md usually appear within the first few months of life and include sparse, kinky hair.
Menkes disease is a rare xlinked recessive disorder caused by impaired copper absorption and transport. 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 md is an xlinked multisystemic lethal disorder of copper metabolism. An slps perspective on menkes syndrome earn 10 reward points by commenting the blog post november is menkes awareness month, so today olga z. The prognosis in menkes disease is dependent on early copperhistidine therapy. Despite an early, severe, and progressive neurologic involvement, our knowledge of brain involvement remains unsatisfactory. Brain copper deficiency accounts for many of the neurological manifestations of classic menkes disease. Milder variants of menkes disease, including occipital horn syndrome also known as xlinked cutis laxa or ehlersdanlos type 9 have also been described. A number of other eponyms, such as menkes steely hair disease, menkes kinky hair disease, trichopoliodystrophy, and menkes syndrome, have. Menkes diseasea hypothesis with recommandations for future investigations.
1599 217 63 1559 1620 324 7 122 1129 766 671 47 828 740 265 737 1240 737 949 1502 751 513 223 1443 1068 900 946 1341 782 1328