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

The mouse mutant Mobr is an animal model of Menkes kinky hair syndrome with a similar defect in copper utilization. The copper-dependent enzyme, cytochrome oxidase from the brain, liver, and heart mitochondria was examined. The brain and heart from Mobr/y had significantly less cytochrome alpha + alpha 3 than normal animals' when the cytochrome absorption spectra of tissue samples from animals 11 to 13 days of age were analyzed. Liver cytochrome was not significantly different. When brain mitochondrial cytochrome oxidase spectrograms from animals of different ages were examined, a major change was found to occur during the 2nd week of life. When cytochrome oxidase activity from brain mitochondria was measured, assaying the rate of oxidation of cytochrome c, the results were similar to those from spectrogram analysis.
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PMID:Depletion of brain mitochondria cytochrome oxidase in the mottled mouse mutant. 300 22

Twin males aged 24 years showed dementia, dysarthria, gait disturbances and involuntary movements, with slightly low levels of serum copper and ceruloplasmin, and markedly low excretion of urinary copper. We propose that the unique combination of dementia, dysarthria, gait disturbances, involuntary movements and abnormalities of copper metabolism does not fit any known nosological entity and constitutes a "new" syndrome different from Wilson's and Menkes' diseases.
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PMID:An unusual neurological disorder with abnormal copper metabolism. 306 63

A 3 2/12-year-old boy had recurrent seizures, chronic respiratory infection, and delayed physical and mental development. He also had low plasma copper content typical of Menkes syndrome. Autopsy showed marked neuronal loss and gliosis in most areas of the cerebral and cerebellar cortices, midbrain, pons, and medulla. The spinal cord showed severe demyelination in both ascending (spinocerebellar) and descending (lateral corticospinal) tracts from the cervical to the sacral level. In addition to these neuronal lesions, both the meningeal and parenchymal arterial and venous branches were remarkably dilated in the brain and spinal cord. Our previous study of this case showed abnormal perivascular innervation and abnormal axonal swelling of the postganglionic adrenergic fibers elsewhere in the body. The metabolic disorder caused by copper deficiency induces severe neuronal degeneration that is apparently exaggerated by extensive and progressive vascular abnormality.
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PMID:Neuronal and vascular disorders of the brain and spinal cord in Menkes kinky hair disease. 313 Aug 71

Menkes' disease is a rare X-linked recessive inherited disorder of copper metabolism characterized by neurodegeneration, peculiar hair, and early death. The symptoms can be attributed to decreased activity of copper-dependent enzymes, but treatment with copper has so far failed to influence the course of the disease. We present the case of an 8.5-year-old boy, whom we treated alternately with intramuscular copper-histidine and oral D-penicillamine and who showed an extraordinary mild form of Menkes' disease. In contrast to his untreated maternal uncle, this patient had normal growth and intellectual development, but showed marked ataxia and slight speech difficulties. We suggest that parenteral copper-histidine supplemented by oral D-penicillamine may be of benefit to early-treated patients with Menkes' disease.
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PMID:Menkes' disease: long-term treatment with copper and D-penicillamine. 318 Dec 4

The hemizygote of the macular mutant mice, which is clinically and neuropathologically considered to be a model of Menkes kinky hair disease (MKHD), were injected intraperitoneally four times with 10, 20, 20 and 30 micrograms of cupric chloride on days 4, 6, 8 and 10 after birth, respectively. Their cerebral and cerebellar cortices were chronologically examined by electron microscopy. In the cerebral cortex, only a few abnormal mitochondria with electron-lucent matrix and short peripherally located cristae were scattered in the neurons on day 14, and these had almost entirely vanished after day 21. In the cerebellar cortex, abnormal mitochondria were frequently found on day 14 in the dendrites of the Purkinje cells, whereas they were only occasionally observed in their cytoplasm. Those in the dendrites had decreased in number on day 30, and only a few of them were seen in the cerebellum after day 45. These results show that the copper therapy reduced ultrastructural abnormalities in the hemizygote of this mutant mouse.
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PMID:Electron microscopic study on brain of macular mutant mouse after copper therapy. 320 20

Kinky hair disease is a progressive neurologic disease associated with decreased copper absorption. Because dopamine-beta-hydroxylase, an essential enzyme in norepinephrine biosynthesis, is copper-dependent, we studied norepinephrine metabolism in vivo in 5 affected children. Patients with kinky hair disease had decreased plasma norepinephrine concentrations (196 +/- 25 pg/ml) in comparison to control patients (325 +/- 20 pg/ml, p less than 0.001). The ratio of total urinary norepinephrine metabolites to total dopamine metabolites was 0.25 +/- 0.04 in kinky hair patients and 0.52 +/- 0.03 in controls p less than 0.001). These data indicate that dopamine-beta-hydroxylation in vivo is decreased in patients with kinky hair disease; however, there was no correlation between serum copper concentration and catecholamine abnormality.
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PMID:Catecholamine metabolism in kinky hair disease. 323 5

Six patients with Menkes syndrome are described, who differ from patients with the classical form of Menkes syndrome because of their longer survival; some of them also exhibited a milder manifestation of symptoms. Based on the present data and a summary of seven case reports describing Menkes patients with long survival, it may be possible to divide these patients into two subgroups: one group of severely affected patients with long survival and another group of very mildly affected patients with late onset of symptoms. Perhaps only the latter represents a true subgroup of Menkes syndrome. The possible benefits of copper therapy are discussed.
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PMID:Variability in clinical expression of Menkes syndrome. 323 33

A 30-month-old infant with Menkes kinky-hair disease died, with prominent vascular, cerebral and cerebellar degeneration. Increased numbers of mitochondria containing homogeneous dense bodies were seen on electron-microscopic examination of Purkinje cells. Subsarcolemmal aggregates of mitochondria ('ragged red' fibers) were present in skeletal muscle. These mitochondrial alterations support the hypothesis that copper deficiency results in mitochondrial encephalomyopathy.
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PMID:Menkes kinky hair disease with 'ragged red' fibers. 323 9

The effects of copper administration to neonatal male mice on the copper concentrations and activities of copper-containing enzymes in cerebrum, liver, and kidney were studied. Intraperitoneal copper injections at 7 and 10 days of age increased the activities of superoxide dismutase and cytochrome oxidase in cerebrum and liver, and also increased the copper concentrations in cerebrum, liver, and kidney at 13 days of age. Maternal copper administration during the late-gestational period (from 13 days gestation to delivery) decreased the activities of both enzymes and increased the copper concentration in cerebrum. This increased level of copper remained by 13 days of age after birth. Liver showed similar changes to those in cerebrum, but the renal responses were less remarkable. Maternal copper administration from the late-gestational through lactational periods affected neonatal growth, decreased the activity of cytochrome oxidase, and increased the copper concentrations in all tissues examined. It is known that the copper concentration and copper-containing enzyme activity are low in cerebrum of mottled mice as well as of patients with Menkes' disease. These results suggested that the cytochrome oxidase activity in cerebrum was decreased by not only copper deficiency but also excess. The combination of prenatal copper supplementation by means of maternal copper administration during the late-gestational period and intraperitoneal copper injections after birth, while being careful not to overdose, is expected to be efficient for the copper supplementation to mottled mice.
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PMID:Effects of copper administration on fetal and neonatal mice. 324 47

We report the first case of Menkes' disease in Korea, occurring in a 1 1/2 year old boy with characteristic clinical, arteriographic and pathologic features. Postmortem examination revealed widespread neuronal destruction and abnormally tortuous and elongated large arteries including cerebral, visceral and limb vessels. Microscopically, many of the hairs formed were twisted (pili torti), of varying caliber (monilethrix), and fractured (trichorrhexis nodosa). In the radioactivated analysis of scalp hair, copper elements was not found. The abnormal vessels were characterized by fragmentation and disruption of the internal elastic lamina with intimal proliferation. The neuronal destruction was widespread in the cerebral gray matter and in the cerebellum, and there was associated gliosis. The changes in the cerebellum were particularly severe, with neuronal loss in the internal granular cell layer. Many Purkinje cells were lost, and the remainder showed unusual dendritic sprouts from the cell body and grotesque proliferation of dendritic tree. In other organs, mild chronic peribronchitis, and scattered foci of immature glomeruli in renal cortex were noted.
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PMID:Menkes disease--an autopsy case with metal analysis of hair. 326 46


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