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

The pathogenesis of Menkes disease seems to be linked to metallothionein which binds to copper trapped within cells in some tissues. The only known therapy for this disease is parenteral administration of copper, but the effects are equivocal. We treated a patient with Menkes disease by giving vitamin C orally. The clinical manifestation and bone changes improved and the plasma copper and ceruloplasmin levels gradually increased. Vitamin C may prevent the binding of copper and metallothionein by its reducing effect, and excess copper would be released from the cells. Vitamin C treatment is a simple and physiological method, and should aid in clarifying the pathogenesis of the disease.
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PMID:Menkes disease: is vitamin C treatment effective? 408 90

Copper deficiency of nutritional origin has been recognized as an important part of complex nutritional problems in Peru, as an occasional even in premature babies in Western countries, and as a real hazard of over-zealous zinc therapy or of prolonged parenteral alimentation in children or adults. Anaemia, osteoporosis and scurvy-like bone changes are recognized in the deficiency, and they respond to copper. Copper intake is falling in western countries as a result of prepackaging of foods, and low-grade chronic deficiency may become a problem. The features seen in Menkes' syndrome suggest that human beings may be rather susceptible to the vascular and neurological effects of copper deficiency; these effects may be encountered as a consequence of prolonged mild copper deficiency. Measurement of the serum concentrations of caeruloplasmin before and after moderate copper repletion is suggested as a method of detecting mild copper deficiency.
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PMID:Copper deficiency in humans. 611 May 26

In a 4-year-old male with Menkes kinky hair disease (MKHD) treated with copper supplement therapy, reduced cytochrome a + a3 contents in liver was demonstrated to be 0.029 against 0.128 nmol/mg protein in the control. Cytochrome c oxidase activities in brain, liver, skeletal muscle, and heart were 47, 22, 54 and 59% of the control, respectively. The copper contents in brain and liver were decreased. In spite of increased serum levels of copper and ceruloplasmin, the decreased cytochrome c oxidase activities in various organs were not corrected by copper supplement therapy. A search for a therapeutic method which can normalize copper enzymes in brain and liver, would seem to be a prerequisite for the treatment of MKHD.
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PMID:Cytochrome c oxidase deficiency in Menkes kinky hair disease. 632 7

The recognition of Menkes' kinky hair syndrome, trichopoliodystrophy, may present problems in the early neonatal period. The serum copper, and ceruloplasmin levels are within the range of normal infants in the first week of life; they are higher than normal in the cord blood of affected infants and fall gradually. Pili torti may only develop later, as the primary fetal hair is normal. The baby may appear bald, or both normal and abnormal hair may be found in different areas of the skull. The roentgenographic signs of wormian bones in the skull, metaphyseal spurring of the long bones, and diverticuli of the bladder develop progressively and may not be seen until after 6 weeks of age. However, diagnosis is possible in the neonatal period, if male infants with unexplained hypothermia, hypotonia, septicemia, or seizures are investigated by serum copper and ceruloplasmin levels after 1 month of age.
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PMID:Difficulties in the neonatal diagnosis of Menkes' kinky hair syndrome--trichopoliodystrophy. 646 87

In the untreated infant with Menkes Kinky Hair Syndrome, copper concentrations in brain and liver are deficient, while excessive copper accumulates in other tissues. The observed serum ceruloplasmin response after parenteral copper administration is suggestive of an impairment in the incorporation of copper into this metalloprotein. These findings, together with increased urinary copper excretion and the absence of clinical improvement, are compatible with a generalized defect in copper metabolism, transport or storage. The excessive accumulation of copper in many tissues illustrates the potential danger of parenteral copper therapy.
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PMID:The failure of parenteral copper therapy in Menkes Kinky Hair syndrome. 646 39

Three patients with Menkes' disease, an inherited disorder of copper transport, were studied to determine whether the copper deficiency was associated with a lipoprotein disorder. Hypocuprinemia was documented in all three cases. Two patients had severe copper and ceruloplasmin deficiencies, whereas the third patient had a less severe deficiency. Hypertriglyceridemia was observed in the first patient, and elevations in triglyceride, cholesterol, apolipoprotein B (ApoB), and apolipoprotein C-III (ApoC-III) occurred predominantly in the very low density lipoprotein fraction (VLDL). This patient had normal lipoprotein lipase activity but mild glucose intolerance. The second patient had a borderline high cholesterol level with normal plasma triglycerides and apolipoproteins, whereas the third patient appeared to have normal total cholesterol but slightly higher triglycerides with elevated plasma apolipoprotein E (ApoE). No striking differences were observed in the chemical composition of all lipoprotein subfractions between patients and controls except that the neutral lipid content of VLDL was higher in patients than in controls. The ApoB was initially normal in molecular weight but degraded faster than the controls during storage. The appearance of the major low density lipoprotein (LDL) fraction of the first two patients was opaque white, in contrast to clear yellow in the third patient and in the age- and diet-matched controls. This abnormal appearance of LDL in these patients was associated with low plasma levels of beta-carotene and ceruloplasmin. These findings suggest that decreased serum copper levels may be associated with lipid and lipoprotein abnormalities and may enhance lipid peroxidation of LDL accounting for the color change.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Studies of lipids, lipoproteins, and apolipoproteins in Menkes' disease. 648 10

The authors report a case of Menkes' syndrome, probably the first one described in Brazil. The patient, a 15-month-old boy, showed pili torti, early progressive psychomotor deterioration and seizures. Serum levels of ceruloplasmin and copper were very low. Neuroradiological and roentgenological examinations revealed diffuse cerebral atrophy, arterial changes and bone abnormalities. At the post-mortem examination the more consistent findings were cerebral atrophy, neuronal loss in the thalamus and above all cerebellar cortical lesions. The disease has a sex-linked recessive inheritance and is believed to be caused by an inborn error of copper metabolism, perhaps subordinated to changes of proteins which carry copper to different tissues. The relevant literature in relation to the pathogenesis is reviewed.
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PMID:[Menkes syndrome: review of the pathogenesis apropos of a clinico-pathological case]. 649 17

A method is reported for isolation and purification of human ceruloplasmin and apoceruloplasmin from serum. It involves a rapid and mild procedure by ion exchange chromatography on DEAE-Sephacel using a pH and ionic strength concave gradient. It was applied to serum of patients with oculocutaneous albinism, Wilson's disease, Menkes' disease and pregnant women. The ceruloplasmin obtained by this method is undegraded, and homogeneous by physico-chemical and immunochemical analysis.
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PMID:Isolation and purification of ceruloplasmin in oculocutaneous albinism, Menkes' disease, Wilson's disease and pregnant women. 661 79

Trichopoliodystrophy (also known as Menkes' kinky or steely hair disease), a recessive sex-linked syndrome, is characterized by severely retarded mental and physical development, convulsions, a particular phenotype and abnormalities of the hair, bones and arteries. Very low levels of copper and ceruloplasmin in the serum confirm the diagnosis. This rare disorder is caused by an inborn error of copper metabolism whose nature is not yet clear. Recent hypotheses favour either an abnormality in the transport of copper across the cell membrane or increased affinity for copper of the intracellular binding protein. Because the metabolic abnormality is expressed autonomously and irregularly in various tissues, the distribution of copper within the body is disordered. Up to now none of the many forms of copper therapy has succeeded in modifying the fatal course of the disease in humans. This article presents a new case, the first in Canada, and a review of the other 69 cases described in the literature. The new case illustrates, in addition to the classic picture, less well known features, such as diverticula of the bladder mucosa and serosa, as well as cortical atrophy and malformed cerebral vessels demonstrated by computer-assisted tomography.
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PMID:[Trichopoliodystrophy or Menkes disease]. 700 75

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


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