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 .

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Rather extensive biochemical investigations showed elevated plasma glutamic acid as the only consistent abnormality. Life-span and Menkes kinky hair syndrome: Hypercalcaemia Milk-alkali syndrome Burnett’s Calcinosis CalciphylaxisCalcinosis cutis Calcification Metastatic calcificationDystrophic calcification Familial hypocalciuric hypercalcemia.

The classical form of MD comprises a neurological degenerative syndrome enfermexad compromise, ataxia, seizures, retarded neurological developmentarterial abnormalities, bony changes like osteoporosis, bladder diverticulumchanges of connective tissue and skin and hair abnormalities pili torti, monilethrix and trichorrhexis nodosa When present, pili torti can be considered, in their opinion, a reliable indicator of heterozygosity.

The mutations were located within the conserved part of ATP7A between residues val and ser Bilateral inguinal hernias in MD had previously been described in mild forms of the disease, like the occipital horn syndrome mild variant form of DMalthough enfermevad can also be found in the classical presentation; they are probably due to structural abnormalities of connective tissue 5, The ‘mottled’ mutation in the hamster is also probably homologous Yoon, Electrodiagnostic medicine second edition.

Enfermedad de Menkes: Artículos científicos

We need long-term enferkedad funding to provide you the information that you need at your fingertips. Ascorbic acid oxidase is copper-dependent.

J Bioenerg Biomembr ; When the extracellular copper concentration was increased, MNK in the CHO cells was redistributed to the cytoplasm and plasma membrane, but returned to the TGN under basal, low copper conditions. Two patients had seizures.


French and Sherard presented evidence that they interpreted as indicating that this disorder may represent an abnormality of lipid metabolism. Male mice with the Mottled-Brindled allele accumulate copper in the intestine, fail to export copper to peripheral organs, and die a few weeks after birth.

The striking hair changes are probably the result of defective formation of disulfide bonds in keratin since this process is copper-dependent, and copper deficiency in sheep leads to the formation of wool with defective cross-linking Collie et al. When ionic zinc is present in the liver or intestine it induces the synthesis of metallothionein to which the zinc is bound. Sex-linked neurodegenerative disease associated with monilethrix.

Suppression by copper supplementation”.

Comparative mapping suggested to Horn et al. Screening unrelated patients affected with Menkes syndrome, Tumer et al. Studies of the biochemical basis of kinky hair disease.

Menkes’ disease: case report

Centromeric heteromorphism was used as the ‘marker trait. They estimated the mutation rate for Menkes disease to be 1. In the Golgi apparatus, ATP7A protein provides copper to certain enzymes that are critical for the structure and function of bone, skin, hair, blood vessels, and the nervous system.

Menkes kinky hair disease: The protein is normally found in the Golgi apparatus, which is important for modifying proteins, including enzymes.

Menkes disease

Evidence that the Menkes locus maps on proximal Xp. Muscle strength was slightly diminished, deep tendon reflexes were increased with extension plantar reflex response. Early copper-histidine treatment for Menkes disease. CC ].

Screening of unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A. The decreased supply of copper can reduce the activity of numerous copper-containing enzymes that are necessary for the structure and function of boneskinhairblood vessels and the nervous system such as lysyl oxidase. To determine the function of MT in the presence of Atp7a deficiency, Kelly and Palmiter crossed Mottled-Brindled females with males that bear a targeted disruption of the Mt1 and Mt2 genes.


On the genetic length of the short arm of the human X chromosome. Alterations in copper and collagen metabolism in the Menkes syndrome and a new subtype of the Ehlers-Danlos syndrome.

By immunofluorescence, they showed that the full-length recombinant Menkes protein, the isoform that is not expressed in the occipital horn syndrome, localizes to the Golgi apparatus, whereas the alternatively spliced form, which lacks sequences for transmembrane domains 3 and 4 encoded by exon 10 and is expressed in the occipital horn syndrome, localizes to the endoplasmic reticulum.

Category:Menkes disease – Wikimedia Commons

A sex-linked disorder with mental and physical retardation characterized by cerebrocortical atrophy and increase of glutamic acid in the cerebrospinal fluid. This distribution was considered consistent with wnfermedad protein being involved in copper resorption from the urine.

By then aged 10 years, the patient had been treated for many years with injections of copper histidinate. Menkes kinky hair disease: Late-onset treatment in Menkes disease: Female Carriers Smpokou et al. Bray observed 2 brothers who died as infants with spastic dementia, seizures, and defective hair.

Hunter syndrome Purine—pyrimidine metabolism: Please consider making a donation now and again in the future.