Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022716 (Menkes)
 1,057 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient with Menkes' kinky hair syndrome was treated with oral CuSO4. Plasma copper, ceruloplasmin, red cell copper, and 24-hr urine copper excretion remained essentially unchanged. Intravenous copper infusion resulted in a rise of serum ceruloplasmin. During administration of a test meal of 64Cu(NO3)2, the patient was given alternately a volume of 0.9% NaCl or an equal volume of plasma intravenously. Radioactivity found in the blood was unchanged after each infusion period. During 427 days of subcutaneous copper, plasma p-phenylenediamine oxidase activity and plasma copper rose toward normal. Subsequent balance studies showed that the patient was in negative copper balance because of large losses in feces. Scanning electron microscopy demonstrated persistent pili torti.
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PMID:Menkes' Kinky hair syndrome: studies of copper metabolism and long term copper therapy. 87 3

Several primarily inherited disturbances of minerals and trace elements have been discovered within the last 20 years. Secondary disturbances of selenium and zinc induced by dietetic treatment of inborn errors of metabolism and by parenteral nutrition also came to our knowledge recently. Two main types of chronic or primary hypomagnesaemia are known which are caused either by impaired intestinal absorption or by false magnesium handling by the kidneys. In acrodermatitis enteropathica, an autosomal-recessive inherited disease leading to characteristic skin lesions, alopecia and dystrophy, low zinc concentrations of serum, urine and hair are measured. The intestinal absorption of zinc is reduced. In copper metabolism two inherited diseases are known with low serum and usually caerulosplasmin concentrations. In Menkes' steely hair syndrome (trichlpoliodystrophy) an intestinal net malabsorption of copper exists, whereas in Wilson's disease the copper contents of several organs are increased.
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PMID:Primary and secondary disturbances in trace element metabolism connected with genetic metabolic disorders. 91 52

Electrophoresis on cellulose acetate membranes and electrothermal atomization for atomic absorption spectrophotometry have been combined to allow the determination of copper in protein fractions separated from only 2 mul volumes of serum. The sensitivity of the method is 5.2 X 10(-11) g of copper for 1% absorption at 324.7 nm, and the precision of replicate analyses at the 1.7-ng level is 0.086 (Relative Standard deviation). The mean recovery of copper from the alpha2-protein fraction of a serum sample was 94%. The method has been applied to a study of the changes in the copper content of the various protein fractions of sera from patients with Menkes' syndrome.
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PMID:The microdetermination of copper in plasma protein fractions. 97 38

Cultured skin fibroblasts from patients with Menkes disease, an X-linked disorder involving a defect in copper metabolism, were analyzed for copper concentration by means of atomic absorption spectrophotometry. These cultures consistently exhibited elevated copper concentrations (mean = 335.5 ng of copper per mg of protein) when compared to control fibroblast cultures (mean = 59.2 ng of copper per mg of protein). External factors that could influence the copper content of cultures were found not to affect the differences in copper concentration between control and Menkes cells. Furthermore, Menkes cells could be differentiated from cultured fibroblasts of controls, of presumed heterozygotes, and of Wilson's disease patients by copper concentration. These observations led to the conclusion that the increased copper content of cultured Menkes cells was characteristic of Menkes disease, resulting from the expression of the genetic abnormality. This provides a genetic marker, a defect in metal metabolism demonstrated in human fibroblasts, that should prove valuable in both the diagnosis of Menkes disease and in the study of the fundamental defect of this genetic disorder.
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PMID:Menkes disease: a biochemical abnormality in cultured human fibroblasts. 106 Nov 60

The effect of repeated intravenous infusions of cupric salts was studied in two patients (cousins) with trichopoliodystrophy identified at the ages of 3 days and 2 and-one-half mo, respectively. The intravenous doses of copper were gradually increased and normal or near-normal serum values were achieved after 150 mug/Cu2+/kg were administered daily for 5 days. At that time the hepatic concentration of copper in the two patients increased from 14 to 38 mug/gm of dry weight from 7 to 45 mug/gm of dry weight, respectively, and the muscle homogenate exhibited the capacity to oxidize pyruvate-3-14C. Continued infusions of cupric salts in doses of 190-220 mug/kg/day once or twice weekly were necessary to maintain elevated hepatic and serum concentrations of copper. At 6 mo of age the younger infant had reached a functioning level of 4 mo. The older infant demonstrated progressive loss of neurologic functions and died at 15 mo of age. These observations suggest that the neurologic and biochemical dysfunctions of trichopoliodystrophy may be altered by infusion of cupric salts early in the course of the disease.
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PMID:Copper infusion therapy in trichopoliodystrophy. 111 84

The distribution of copper among the organs of an aborted, male foetus, expected to develop Menkes' syndrome, was entirely different from the distribution in 4 normal foetuses. Copper concentrations determined by neutron activation analysis showed a considerably reduced content in the liver, but increased concentrations in the other organs analysed; total foetal copper was normal.
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PMID:Extra-hepatic storage of copper: a male foetus suspected of Menkes' disease. 117 40

Light and electron microscopic studies of the ocular tissue of a case of Menkes' kinky hair disease are described. The copper deficiency responsible for this systemic and neurologic disease appears to cause a progressive degeneration of retinal ganglion cells, loss of nerve fibers, and optic atrophy. The pigment epithelium is also abnormal with only small and irregular melanin granules present among electron-dense inclusion bodies. Abnormal elastica is present in Bruch's membrane.
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PMID:Menkes' kinky hair disease: a light and electron microscopic study of the eye. 124 86

Three unrelated cases of Menkes's syndrome are described. In addition to the typical features these cases all showed abnormalities of the urinary tract characterized by hydronephrosis, hydroureter, and bladder diverticula. There was no organic obstruction in the urinary tract and the changes are presumed to be due to disturbed innervation. The 3 patients showed no overall clinical response to parenteral copper therapy administered for periods of 1 to 8 months. Necropsy studies showed structural changes in veins as well as arteries together with aneurysm formation in both, and one case showed a polypoid lesion in the stomach.
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PMID:Menkes's steely hair syndrome. 127 38

Menkes disease, an X-linked recessive disorder of copper metabolism, has recently been mapped to Xq13.3 by two Menkes patients carrying chromosome rearrangements within this region. The breakpoints have been investigated by nonisotopic in situ suppression hybridization using YACs isolated from this region with the flanking markers DXS56 and PGK1. Three YACs were extending over the breakpoints at Xq13.3 and were shown to be overlapping by partial digest restriction maps, IRS-PCR fingerprinting and by the presence of common cosmid clones. These cosmids were subcloned and one of the single copy probes detected both breakpoints using rare-cutting restriction enzyme digests of the patients. All the results together localize the breakpoints to about 100 kb within the overlapping region of the YACs. Mapping of both breakpoints in a 1 Mb YAC contig implies that these YACs contain at least partially, the gene responsible for Menkes disease.
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PMID:Characterization of a 1.0 Mb YAC contig spanning two chromosome breakpoints related to Menkes disease. 130 48

Menkes disease is an X-linked, recessive disturbance of copper metabolism associated with a progressive clinical course and abnormal hair. The disease is dominated by neurological symptoms combined with connective tissue manifestations, most of which can be explained by the lack of important copper enzymes. Despite excessive accumulation of the metal in various tissues, a functional copper deficiency is evident, probably caused by a defective intracellular copper transport protein of unknown nature. The molecular basis of the copper disturbance has proven difficult to define and will most likely have to await cloning of the gene. The chromosomal region of interest has now been narrowed down to a sub-band on the long arm of the chromosome (Xq13.3), and positional cloning is in progress in a number of laboratories including our own. Identification of the Menkes gene will be of importance for our understanding of the cellular handling of copper and other trace elements.
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PMID:Menkes disease: an X-linked neurological disorder of the copper metabolism. 134 68


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