A sexlinked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. The treatment options are limited because the brainblood barrier acts as an obstacle to copper delivery without the transporter protein 1,2,5,16, from wikipedia, the free encyclopedia. Peltonen l, kuivaniemi h, palotie a, horn n, kaitila i, kivirikko ki. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for menkes disease. The clinical phenotype is marked by fine silvery wiry hair, doughy skin, connective tissue disturbances, and progressive neurologic deterioration. Menkes disease genetic and rare diseases information center.
Jun 25, 2018 menkes kinky hair syndrome is an xlinked recessive multisystemic lethal disorder of copper metabolism. Menkes syndrome is an xlinked recessive multisystem disease which is usually fatal prior to 5 years of age. Menkes disease medical definition merriamwebster medical. Menkes disease mnk, also known as menkes syndrome, is a xlinked recessive disorder that affects copper levels in the body, leading to copper deficiency. Patient with this disease are both physically and mentally retarded. Neuroimaging changes in menkes disease, part 1 american. Copper histidine therapy for menkes diseases full text view. A 2year and 9monthold boy with menkes syndrome is reported. Offers a parent and professional network that provides support and referrals for menkes disease families. A cure for the disease does not exist, but very early copperhistidine treatment may correct some of the neurological symptoms. It is an xlinked recessive disorder, and is therefore. Menkes syndrome, national center for biotechnology information, ncbi genes and disease webpage, u. 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.
Diagnosing the syndrome during the neonatal period is difficult. Menkes disease is caused by a defective gene named atpta 1 that regulates the metabolism of copper in the body. Menkes disease symptoms, diagnosis, treatments and causes. Menkes disease nord national organization for rare disorders. Despite an early, severe, and progressive neurologic involvement, our knowledge of brain involvement remains unsatisfactory. The relation between abnormal copper metabolism and cataract is discussed. Menkes disease genetic and rare diseases information. 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. Menkes disease is characterized by dry skin and abnormal hair that is often brittle, tangled, sparse, steely or kinky and is often white, ivory, or grey in color. 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. The infant had fair complexion, sparse fuzzy wooly hair with marked trunkal hypotonia. Pdf menkes disease md is a lethal multisystemic disorder of copper metabolism. Media in category menkes disease the following 8 files are in this category, out of 8 total.
Leland is my 9 month old baby boy who was diagnosed with menkes on march 4 2016 he was born with low body temp crazy kinky hair light skin pigment skull deformed and very loose skin. Some additional signs and symptoms may include weak muscle tone hypotonia, sagging facial features, seizures, developmental delay, and intellectual disability. Ppt menkes disease powerpoint presentation free to. 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. One other condition in the atp7a group are part of the differential diagnosis for menkes syndrome. Strabismus associated with menkes syndrome could result from structural abnormalities in the extraocular muscle pulleys, which consist of elastin and collagen and influence the rotational axis of extraocular muscles see table 3. 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. It results in low copper levels and subsequently, deficiency in copperdep. 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. Menkes disease md is a usually severe multisystemic disorder of copper metabolism, characterized by.
Menkes syndrome is usually inherited, which means it runs in families. Copper accumulates at abnormally low levels in the liver and brain, but at higher than normal levels in the kidney and intestinal lining. 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. The affected infant may also appear to have a yellow appearance jaundice which is caused by excessive bilirubin in the blood hyperbilirubinemia. He was also suffering from frequent attacks of cough and cold since 6 months of age which was marked prior to admission. A case of menkes syndrome with cataracts springerlink. What is the life expectancy of someone with menkes disease. Though originally felt to be a disorder of copper deficiency, it now appears to be a copper storage disease, with the observed defects resulting from inappropriate systemic copper distribution. Menkes disease, an x linked recessive neurodegenerative disorder, results from a mutation in the gene coding for the copper transporting atpase atp7a. Individuals with menkes disease have an abnormally low level of copper in the.
The onset of menkes disease typically begins during infancy, affecting about 1 in 100,000 to 250,000 newborns. Menkes disease is caused by a defect in the atp7a gene. Menkes disease is usually first detected in the first 23 months of life. Effective treatment has led to children surviving into adulthood. Menkes syndrome is inherited in an xlinked recessive pattern. Menkes disease is a rare multisystem xlinked disorder of copper metabolism. Danks et al first noted that copper metabolism is abnormal in 1972. A ten minute documentary on menkes disease a rare fatal genetic disorder. Alterations in copper and collagen metabolism in the menkes syndrome and a new subtype of the ehlersdanlos syndrome. Corporation for menkes disease 5720 buckfield court fort wayne, in 46804 phone. Learn the symptoms and treatments of menkes disease.
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. For example, occipital horn syndrome ohs is viewed by many as a mild form of menkes disease 1, although it does have distiguishing features. The gene associated with this condition is located on the x chromosome, which is one of the two sex chromosomes. We describe a 7 months male patient who presented with seizures, hypoactivity and absence of visual contact. Menkes disease mnk, also known as menkes syndrome, is an xlinked recessive disorder caused by mutations in genes coding for the coppertransport.
Menkes disease, national institute of neurological diseases and stroke ninds menkes disease, online mendelian inheritance of man omim menkes syndrome, medicinenet. Progressive neurodegeneration and connective tissue disturbances. Menkes syndrome is a disorder that affects copper levels in the body. We describe a 7 months male patient who presented with. Fort wayne, in 46804 219 43607 national organization for rare disorders p. Nov 11, 2019 menkes disease mnk, also known as menkes syndrome, is an xlinked recessive disorder caused by mutations in genes coding for the coppertransport. Menkes disease is listed as a rare disease by the office of rare diseases ord of the national institutes of health nih. Additional signs and symptoms include weak muscle tone hypotonia, sagging facial features, seizures. Mar 23, 2020 menkes disease mnk, also known as menkes syndrome, is an xlinked recessive disorder caused by mutations in genes coding for the coppertransport. Diagnosis and therapy of menkes syndrome, a genetic form of. Early treatment with copper may improve the prognosis in some affected. Additional signs and symptoms include weak muscle tone hypotonia, sagging facial features, seizures, developmental. The investigation disclosed pilli torti and thrycorrexis nodosa in the hair.
Menkes syndrome definition of menkes syndrome by medical. 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. 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. 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.
Infant males born with the disease fail to thrive, experience hypothermia, have delayed development, and experience seizures. Infants with mnk syndrome often do not live past the age of 3. There is no complete cure for menkes disease at this time, but treatment with. The defect makes it hard for the body to properly distribute transport copper throughout the body. Danks dm, campbell pe, stevens bj, mayne v, cartwright e. Sep 18, 2008 an eight month old male infant with protein energy malnutrition was admitted in the hospital with the history of repeated attacks of convulsion since four months of age.
Suzy menkes born 1943, british fashion journalist see also edit menkes disease, 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. Apr 05, 2020 menkes syndrome, also called menkes disease or kinky hair disease, is a genetic disorder causing copper deficiency. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. A number of other diseases, including type ix ehlersdanlos syndrome, may be the result of allelic mutations i. 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. Menkes disease information page national institute of.
Menkes disease is a genetic disorder affecting the metabolism of copper. Menkes disease is a rare neurodegenerative disorder due to an intracellular defect of a copper transport protein. Diagram of copper imblance in menkes syndrome, showing high. Menkes disease, also known as kinky hair disease, is an xlinked neurodegenerative disease of impaired copper transport. Menkes disease is inherited in an xlinked recessive pattern and mainly.
Menkes disease is a disorder that affects copper levels in the body. Mar 30, 2020 menkes disease is a disorder that affects copper levels in the body. This kind of gene inheritance is called xlinked recessive. 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.
Aka kinky hair syndrome, it is the impaired ability to metabolize copper. Menkes disease university of kansas medical center. Menkes disease is a rare progressive neurodegenerative disorder inherited as an xlinked recessive trait. In males who have only one x chromosome, one altered copy of the gene in each cell is sufficient to cause the condition.
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