ENFERMEDAD DE MENKES PDF

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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Since the affinity of metallothionein for copper istimes greater than that for zinc, copper in either organ displaces zinc and binds to metallothionein. Early copper-histidine treatment for Menkes disease. These findings suggested that copper stimulates exocytic movement of MNK to the plasma membrane rather than reducing MNK retrieval and indicated that MNK may remove copper from the cytoplasm by transporting copper into the vesicles through which it cycles.

OMIM Entry – # – MENKES DISEASE

They established a lymphoblastoid cell line from the patient of Kapur et al. Copper deficiency in animals leads to connective tissue changes because formation of lysine-derived cross-links in elastin and collagen is interfered with, the amine oxidase responsible for the initial modification of lysine being copper-dependent. Northern blot experiments showed that MNK mRNA is present in a variety of cell types and tissues except liver, in which expression is reduced or absent.

Retrieved from ” https: At the time of the Tumer et al. A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Menkes had sent hair from his original patients to the Australian Wool Commission, but at that early date the Commission could not identify the problem Menkes, Evidence that the Menkes locus maps on proximal Xp.

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Carrier status for the Menkes disease gene can usually be determined by examination of multiple hairs from scattered scalp sites for pili torti.

From a 3-point analysis, Tonnesen et al. Menkes syndrome can be diagnosed by blood tests of the copper and ceruloplasmin levels, skin biopsyand optical microscopic examination of the mebkes to view characteristic Menkes abnormalities.

Mapping of the Menkes locus to Xq Hair in Menkes disease: Alport syndrome Dent’s disease X-linked nephrogenic diabetes insipidus.

Hypophosphatemia alkaline phosphatase Hypophosphatasia. These patients had normal head circumference, moderate to severe mental retardation, onset at age of 3 to 4 years, dysarthria, laxity of skin, bladder enfemredad, tortuous vessels, chronic diarrhea, and occipital exostoses evident in 3 persons aged 18 to 38 years.

Category:Menkes disease – Wikimedia Commons

When present, pili torti can be considered, in their opinion, a reliable indicator of heterozygosity. Southern blot analyses using a number of probes specific for chromosomes X and 2 showed that the breakpoint in this patient–and, therefore, probably the Menkes gene–mapped to a small subregion of band Xq CCC ].

New England Journal of Mejkes. Spectrum of EEG findings in Menkes disease. Hypotension had been a problem from the age of 14 years. Serum levels of copper and ceruloplasmin should be measured after the third week because as they can be low in normal children during this time-window and low levels of both are needed to confirm the diagnosis 5.

A sex-linked recessive disorder with retardation of growth, peculiar hair and focal cerebral and cerebellar degeneration. Ataxia and dysarthria had been the principal problems.

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Differences from Menkes disease included normal birth weight, no hypothermia, grossly and microscopically normal hair, and radiographically normal bones. 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.

Two lines of evidence strongly implicated the cloned MNK locus in the etiogenesis of Menkes disease: Similarities to Menkes disease were X-linked recessive inheritance, marked psychomotor retardation with seizures, low serum copper and ceruloplasmin levels, and a block in gut copper absorption. The authors suggested that some of the mutations may interfere with copper binding. Bladder diverticula and Menkes’ syndrome. They estimated the mutation rate for Menkes disease to be 1.

The mottled series of mutations in the mouse may be homologous to Menkes syndrome Hunt, He also had a generalized increase in subcutaneous fat with loose, thin skin.

Enfermedad de Menkes: Artículos científicos

This finding supported localization of the MNK locus to Xq13 and suggested fine mapping to subband Xq The genetic mutation responsible for the disease was first identified inleading to a defect in the production of an intracellular protein involved in copper transport 7,8. Five males were affected but the gene could by inference be identified in 4 generations.

Unfortunately, it is not free to produce.

Multipoint linkage analysis in Menkes disease. Screening unrelated patients affected with Menkes syndrome, Tumer et al. This page was last edited on 24 Decemberat

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