Wikipedia. Instance of, disease, Designated intractable/rare diseases. Subclass of, hair disease, metal metabolism disorder. Menkes disease (MNK), also known as Menkes syndrome, is an X-linked recessive disorder caused by mutations in genes coding for the copper-transport . A number sign (#) is used with this entry because of evidence that Menkes disease is caused by mutation in the gene encoding Cu(2+)-transporting ATPase .
|Published (Last):||8 December 2005|
|PDF File Size:||18.66 Mb|
|ePub File Size:||19.20 Mb|
|Price:||Free* [*Free Regsitration Required]|
ATP1A2 Alternating hemiplegia of childhood.
Menkes kinky hair disease: Suppression by copper supplementation”. Defective metallothionein see was suggested.
Occipital horn syndrome sometimes called X-linked cutis laxa or Ehlers-Danlos type 9  is a mild form of Menkes syndrome that begins in early to middle childhood. Menkes disease is an X-linked recessive disorder characterized by generalized copper deficiency.
Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to enfermeddad plasma membrane: Wikimedia Commons has media related to Menkes disease. Three independent groups, in San Francisco Vulpe et al.
Enfermedad de Menkes: Artículos científicos
Bray observed 2 brothers who died as infants with spastic dementia, seizures, and defective hair. Accepted 9 October In the kidney, immunohistochemistry demonstrated the protein in proximal and distal tubules, with a distribution identical in mutant and normal mice.
Using a combination of single-strand conformation analysis and direct sequencing of amplified exons, they detected a single bp deletion in exon 4 in one patient and in exon 12 in the other. Early diagnosis is uncommon, as the first signs can be somewhat unspecific, with more prominent features like the unique hair abnormalities developing over time, sometimes at the same time as neurological compromise Effects of Deficiency and Overload”. This pattern can be found if MD is associated with mitochondrial myopathy, with abnormal motor unit potentials with reduced amplitude and duration, an increase in the density of short polyphasic potentials and increased motor unit recruitment 16, Linkage studies in Menkes disease: Since the affinity of metallothionein for copper istimes greater than that for zinc, copper in either organ displaces zinc and binds to metallothionein.
No adverse effects of pamidronate treatment were noted. Copper deficiency suppresses the immune response of mice. The hair was stubby and white. Treatment with atropine resulted in a brisk increase in heart rate and dde clinical recovery. At the time of the Tumer et al.
OMIM Entry – # – MENKES DISEASE
Enfermfdad is also a cuproenzyme; what role its deficiency may have in the phenotype of kinky hair disease is unclear. Treatment of MD patients must also include, when needed, anti-convulsive drugs 12, Services on Demand Journal. Alterations in copper and collagen metabolism in the Enfermmedad syndrome and a new subtype of the Ehlers-Danlos syndrome. First trimester prenatal diagnosis of Menkes disease by DNA analysis. He was also hypotrophic, with diminished muscle tone in the axial muscles, unable to head sustain, but with an increase in muscle tone of the extremities.
Primary defect in copper transport underlies mottled mutants in the mouse. To clarify these questions, Tumer et enfermedaad. High 64 Cu uptake and retention values in two clinically atypical Menkes patients. Localization of the translocation breakpoint in a female with Menkes syndrome to Xq In the intestine copper does not enter the circulation; advantage has been taken of this fact to decrease the intestinal absorption of copper by administering zinc in Wilson disease One of the patients developed orthostatic hypotension such that he preferred to crouch rather than stand.