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

In order to make clear the degree of brainstem affection in Menkes disease, it is important to investigate morphological and enzymatic changes of monoamine oxidase (MAO)-containing neurons in the brain in this disease. For this purpose, MAO activity levels in brain tissue from normal and brindled mice were examined histochemically and biochemically. A coupled peroxidatic oxidation method for the histochemistry and a rapid microfluorimetric method for the biochemical assay were adopted. Animals aged 3 days, 8 days, 13 days, 3 months and 12 months were used for the histochemical study. Three-, 7-, and 12-day-old mice were used for the biochemical study. Histochemical examinations showed no significant differences in the stainability, morphology and distribution of MAO positive neurons in the brain between normal and brindled mice at the same age. Biochemical assays revealed that MAO activity levels in the brain of the postnatal brindled mice rose with age as highly as those in the normal control mice. There were no significant differences in them between normal and brindled mice at the same age. The results indicate that in Menkes disease in mice the brainstem affection, if there is, is not so severe as to influence the morphology and enzyme activity of MAO-containing neurons.
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PMID:[Histochemical and biochemical investigations of monoamine oxidase activity level in the brain of the brindled mouse]. 179 97

Cultured fibroblasts from Menkes kinky hair disease patients showed markedly reduced succinate dehydrogenase and amine oxidase activities. Cytochrome oxidase activity, however, was greatly reduced in some cells and almost normal in others. Cultured fibroblasts from patients with Wilson's disease showed moderately reduced succinate dehydrogenase and cytochrome oxidase activities. Amine oxidase activity was only slightly reduced when compared to that of normal. These results indicated that the histochemical phenotype observed in fibroblasts from patients with Menkes kinky hair disease and Wilson's disease were distinctly different from each other and from normal fibroblasts.
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PMID:Histochemical studies of fibroblasts from patients with Menkes kinky hair disease and Wilson's disease. 629 Apr 31

Clinical investigations of the urinary excretion of putrescine and the polyamines spermidine and spermine in a patient with Menkes kinky hair disease are reported. This disorder, characterized by intra- and extracellular copper deficiency, is associated with significant depression of diamine oxidase and monoamine oxidase activity. Urinary excretion of diamine and polyamines, monitored over a 2-month interval in a 4-month old patient with Menkes kinky hair disease, documented a 3- to 10-fold increase in the excretion of free putrescine, spermidine and spermine as well as the conjugated derivatives of putrescine and spermidine. These observations suggest that abnormalities in diamine and polyamine concentration occur in disease states in which the metabolic transformation of these compounds is impaired.
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PMID:Polyamine metabolism in Menkes kinky hair disease. 677 49

Copper is an essential dietary component, being the coenzyme of many enzymes with oxidase activity, e.g. ceruloplasmin, superoxide dismutase, monoamine oxidase, etc. The metabolism of copper is complex and imperfectly known. Active transport of copper through the intestinal epithelial cells involves metallothionein, a protein rich in sulfhydryl groups which also binds the copper in excess and probably prevents absorption in toxic amounts. In hepatocytes a metallothionein facilitates absorption by a similar mechanism and regulates copper distribution in the liver: incorporation in an apoceruloplasmin, storage and synthesis of copper-dependent enzymes. Metallothioneins and ceruloplasmin are essential to adequate copper homeostasis. Apart from genetic disorders, diseases involving copper usually result from hypercupraemia of varied origin. Wilson's disease and Menkes' disease, although clinically and pathogenetically different, are both marked by low ceruloplasmin and copper serum levels. The excessive liver retention of copper in Wilson's disease might be due to increased avidity of hepatic metallothioneins for copper and decreased biliary excretion through lysosomal dysfunction. Menkes' disease might be due to low avidity of intestinal and hepatic metallothioneins for copper. The basic biochemical defect responsible for these two hereditary conditions has not yet been fully elucidated.
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PMID:[Copper pathology (author's transl)]. 705 50