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Query: UMLS:C0022716 (Menkes)
 1,057 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In one case of Menkes' Syndrome (Trichopoliodystrophy), a monophylic vacuolisation of myeloic cells (promyelocytes) of the bone marrow was observed. This finding correlates with an identical observation reported in medical literature, as well as with vacuolisations of metabolic active cells of the brain, musculature and skin observed in patients suffering from this disease. In the present paper, this finding is interpreted as an expression of the underlying disease and of the deficiency of oxidative cell ferment systems, and is discussed as a possible diagnostic and therapeutic criterion.
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PMID:[Monophylic vacuolisation of promyelocytes in Menke's-syndrome (trichopoliodystrophy) (author's transl)]. 56 84

The brindled mouse (Mobr) is a neurological mutant mouse with a deficiency in copper transport. This mutant has many clinical as well as biochemical features in common with Kinky hair syndrome (KHS) in humans (Tab. 1). Male hemizygotes (Mobr/Y) are characterized by the absence of fur pigment and curly whiskers. They become inactive, losing weight at around the 10th-12th post-natal day. They usually die in an emaciated state around the 15th-16th postnatal day. The brain weight is usually about three fourths of that of littermate controls. Microscopically, widespread neuronal degeneration was noted in the cerebral cortex and thalamic nuclei of male hemizygotes after the 12th post-natal day. The degeneration continued to increase until death. Scattered degenerated cells were also noted in the cerebellum. No such degenerative changes were observed in the brain of female heterozygotes (Mobr/+) or in normal or starved littermates. These degenerative changes of neurons in the brindled hemizygote mouse will be compared with the neuropathological changes observed in KHS and in experimental animals with copper deficiency, and the possible pathogenesis of these changes will be discussed.
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PMID:Neuronal degeneration in the brain of the brindled mouse--a light microscope study. 57 Oct 7

The defect in Menkes' disease in man is identical to that in Brindled mice. The defect manifests itself in a accumulation of copper in some tissues, such as renal, intestinal (mucosa and muscle), pancreatic, osseous, muscular, and dermal. Hence a fatal copper deficiency results in other tissues (e.g., hepatic). The copper transport through the intestine is impaired and copper, which circumvents the block in the copper resorption, is irreversibly trapped in the above-mentioned, copper accumulating tissues where it is bound to a cytoplasmatic protein with molecular weight 10,000 daltons, probably the primary cytoplasmatic copper transporting protein. This protein shows a Cu-S absorption band at 250 nm, and the copper:protein ratio is increased. Such copper rich protein was found neither in the kidneys of the unaffected mice nor in the liver of the mice that do have the defect. Three models of the primary defect in Menkes disease are proposed.
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PMID:Primary biochemical defect in copper metabolism in mice with a recessive X-linked mutation analogous to Menkes' disease in man. 57 98

The clinical courses and serial computerized tomography (CT) scans of four patients with Menkes disease are described. Although the initial clinical presentations were similar, head growth and serial CT scans showed striking individual differences. The CT scans varied from showing no abnormalities early in the disease to showing diffuse cortical atrophy, subdural accumulation of fluid, or multifocal areas of ischemic infarction. The pathologic findings in one patient showed only cerebral and cerebellar atrophy, whereas the findings in another patient showed areas of ischemic infarction, probably secondary to abnormal vessels. Menkes disease should be suspected in male infants with psychomotor deterioration and seizures, or when trauma is suspected from subdural hematoma and multiple fractures.
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PMID:CT scans in Menkes disease. 57 74

The copper content of various organs of ;brindled' female heterozygotes and male mice affected by this X-linked mutation are documented at the last day of intrauterine development, at 1 day after birth and at 11 days of age. The findings indicate defective placental transfer of copper in utero, and an even more marked defect in intestinal absorption of copper after birth. In addition there is an abnormal distribution of copper among the tissues of the body once it is absorbed. The mutation produces abnormal accumulation of copper in kidney, in gut mucosa and in testis, whereas liver, brain, plasma and most other organs show diminished copper concentrations. The intestinal malabsorption of copper is accompanied by accumulation of abnormal amounts of the metal in the intestinal-mucosa cells. Copper concentrations in both mucosa and luminal contents rise progressively from duodenum to ileum. Defective upper-intestinal absorption, consequent progressive increase in luminal copper concentration and pinocytosis in the ileum would seem to explain the findings. Radioisotopic studies eliminated the possibility of excessive excretion of copper in bile or across the intestinal mucosa. Detailed comparison with findings in humans with Menkes' syndrome is difficult because of the different stages of development at which the studies have been performed, but the results seem in general to conform very satisfactorily. Those differences seen are probably explicable by known species differences. All the findings are in accord with a hypothesis that the basic defect involves accumulation and retention of copper in the cells of affected tissues such as kidney, gut mucosa and placenta.
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PMID:Copper metabolism in mottled mouse mutants: copper concentrations in tissues during development. 57 17

Fibroblasts from infants with Menkes kinky hair syndrome, which accumulate excessive quantities of copper, are thought to represent a disorder of copper storage or transport. Because of this abnormality, it was thought that they might provide a useful system for investigation of the presumed storage or transport protein metallothionein. Data are presented which are consistent with defective copper efflux from the mutant cells. Because of the more specific role of metallothionein in cadmium detoxification, studies of cadmium metabolism were undertaken which demonstrated abnormal cadmium retention and metallothionein induction in the mutant cells. The association, therefore, of a defect of cadmium metabolism and storage with an abnormality of copper efflux provides evidence implicating metallothionein in copper transport for fibroblasts.
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PMID:Role of metallothioneins in copper transport in patients with Menkes syndrome. 68 47

Two species of metallothioneins were isolated from both normal and Menkes kinky hair disease (MKHD) patient livers. Atomic absorption determination of metals indicated that the patient liver metallothioneins had lower copper and cadmium content than normals. Isotope exchange studies, carried out by incubating native metallothioneins with copper-64 or cadmium-109 demonstrated a decreased affinity for copper and an increased affinity for cadmium in both MKHD metallothioneins. An hypothesis is proposed in which metallothionein functions as an intracellular copper carrier and is responsible for the transport of copper between the cells and the surrounding. Change in the copper affinity of the metallothioneins was suggested to be the major abnormality in MKHD.
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PMID:Metal-binding studies of metallothioneins in Menkes kinky hair disease. 69 18

The dose response as well as kinetics of uptake and retention of copper and cadmium of normal and Menkes kinky hair disease (MKHD) cultured fibroblasts are described. In basal culture medium, intracellular copper concentration in MKHD fibroblasts was approximately 3 times that of control cultures. The intracellular copper concentration of MKHD cells was significantly higher than that of normal fibroblasts at medium copper concentrations below 20 microgram/ml. Death of MKHD cells occurred at medium copper concentrations between 15 and 20 microgram/ml with an intracellular copper level 3 times that at basal medium. Normal cells died at medium copper concentration above 30 microgram/ml with an intracellular copper concentration 19 times that at basal medium. These observations suggested the existence of a regulatory mechanism for maintenance and control of intracellular copper in normal fibroblasts which is effective at medium copper concentrations below 30 microgram/ml. This system is defective in MKHD fibroblasts. In basal medium MKHD and normal fibroblasts had similar intracellular cadmium concentrations; however, at higher medium cadmium concentrations MKHD cells had increased intracellular cadmium levels. The uptake of both 64Cu and 109Cd was significantly higher in MKHD cells than in normal cells, indicating that the uptake of 64Cu and 109Cd is not impaired in MKHD cells. A higher retention of 64Cu was observed in MKHD cells at both 37 degrees C and 4 degrees C. No obvious trend, however, was observed in the difference of retention of 109Cd between MKHD and normal cells. An impairment of egress of copper in MKHD cells is implicated by these results.
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PMID:Cell culture studies of Menkes kinky hair disease. 69 39

The authors report the sixth case of Menkes' kinky hair disease. This boy has been observed for as long as 16 months, and he his still alive at the time of publication. This genetic, X linked disorder of copper metabolism is always fatal in childhood. Diagnosis is evoked when is noted the conjunction of progressive cerebral degeneration, seizures, with pili torti and monilethrix. It can be asserted with the very low copper and cerulo-plasmin blood levels. Recognition of the disease in utero might be possible. New findings in skin' electron microscopy and hair' scanning electron microscopy are reported here. And two RX scanner of the brain have been performed.
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PMID:[Menkes' disease (new skin and hair ultrastructural abnormalities) (author's transl)]. 70 42

An autopsy cases of Menkes kinky hair disease in a 1 year and 8 months old male infant is presented and compared with the morphological findings of the previous literatures. The main pathological changes are atrophy of the whole cerebellar cortex and bilateral temporal lobe, atrophy with demyelination of the white matter, tortuous running of the cerebral arteries, multiple diverticulosis of the urinary bladder and hyaline-like deposition in the gastric submucosa. Microscopically, the peculiar degenerative change of Purkinje cell (somal sprout) is the only characteristic lesion in our case and the others. It is suggested that Menkes kinky hair disease may be a syndrome due to metabolic disturbance appearing not only in ectoderm such as the central nervous system, but also in mesoderm such as connective tissue and bone.
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PMID:An autopsy case of Menkes kinky hair disease. 71 84


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