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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Whereas parentally administered copper in the form of copper sulfate or copper-EDTA probably does not produce a substantial clinical improvement, Tumer et al.
An unusual neurological disorder of copper metabolism clinically resembling Wilson’s disease but biochemically a distinct entity. The enfermedsd described by Yoshida et al. There can be extensive neurodegeneration in the gray matter of the brain.
Enfermedad de Menkes: Artículos científicos
Received 19 Junereceived in final form 8 Enfermwdad Horn reported that the mutation in ATP7A was arg to ter enfermeadd Menkes kinky hair disease: Hair in Menkes disease: They demonstrated menkess the normal X chromosome was late replicating, whereas the derivative X chromosome was selectively early replicating. Although treatment did not prevent severe growth and mental retardation, it normalized plasma levels of copper and ceruloplasmin, improved his muscular tone, motor activity, and irritability, and most importantly, he never developed seizures.
Male relatives of 3 of the 4 had a severe clinical course compatible with classic Menkes disease. De Bie et al. Like all X-linked recessive conditions, Menkes disease is more common in males than in females. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase.
Neuropathology of Menkes’ disease. The MNK protein is normally localized predominantly in the TGN; however, when cells are exposed to excessive copper it is rapidly relocalized to the plasma membrane where it functions in copper efflux. There were no further fractures in 2 of the 3 children treated.
It was subsequently treated with a peripheral alpha-adrenergic agonist, midodrine, in combination with fludrocortisone.
Severe atrophy and subdural and epidural collections are the end-stage abnormalities found late in the evolution of the disease, such as in our case. The lack of copper enffrmedad result in these changes, as copper is a key cofactor in the mitochondrial respiratory chain 18, Reduced lysyl oxidase activity in skin fibroblasts from patients with Menkes’ syndrome.
Serum levels of copper and ceruloplasmin should be measured after enfrrmedad 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.
Onset occurs during infancy, with incidence of about 1 intonewborns; affected infants often do not live past the age of three years, though there are rare cases in which less severe symptoms emerge later in childhood. Molecular 3-dimensional modeling based on the structure of ATP2A1 showed that the mutations were more spatially clustered than expected from the primary sequence.
CCC ]. Menkes disease in affected females: The mutations were located within the conserved part of ATP7A between residues val and ser 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 Menkes X linked disease: Menkes disease is an X-linked recessive disorder characterized by generalized copper deficiency.
The authors hypothesized that function of the ATP7A gene had been disrupted by the translocation, either by a structural disruption or by ‘silencing’ as a result of inappropriate localized inactivation in an otherwise active X;13 derivative chromosome.
The authors suggested that some of the mutations may interfere with copper binding. No pili torti were found in one case and very few 2 in 1, in a second. Vitamin C treatment in Menkes’ disease: Treatment with atropine resulted in a brisk increase in heart rate and rapid clinical recovery.
Localization of the Menkes gene to the long arm of the X-chromosome. Neurological examination revealed a hypoactive baby, without social grinning, who could not maintain visual contact nor follow objects, with compromised sucking reflex.
Screening unrelated patients affected with Menkes syndrome, Tumer et al. Menkes disease was diagnosed at autopsy and confirmed by copper accumulation studies on cultured fibroblasts. The disorder affected 4 males in 3 sibships connected through females. They established a lymphoblastoid cell line from the patient of Kapur et al.
OMIM Entry – # – MENKES DISEASE
Is Menkes’ enfetmedad a heritable disorder of connective tissue? Clinical expression of Menkes disease in a girl with X;13 translocation.
Weakened bones osteoporosis may result in fractures. A survey of Japanese patients with Menkes disease from to As the result of a mutation in the ATP7A gene, copper is poorly distributed to cells in the body. They also presented Western blot data for the normal gene product in tissues.