Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:1.16.3.1 (ceruloplasmin)
 5,074 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The accuracy of the serum ceruloplasmin level in distinguishing chronic active hepatitis from Wilson disease was compared to the 24-hour urinary copper excretion and hepatic copper content in 20 untreated patients with chronic active hepatitis and 25 with Wilson disease. Serum ceruloplasmin levels were decreased in five patients (25%) with chronic active hepatitis and were normal in seven patients (28%) with Wilson disease at the time of diagnosis. The 24-hour urinary copper excretion failed to provide accurate discrimination between the two groups, being elevated in all patients with Wilson disease and in five of eight patients with chronic active hepatitis studied. All patients with Wilson disease had hepatic copper levels greater than 400 microgram/gm dry weight, whereas patients with chronic active hepatitis had levels less than 300 microgram/gm dry weight. The discriminatory value of hepatic copper concentration makes this the most reliable test for differentiating chronic active hepatitis and Wilson disease in children and adolescents. The serum ceruloplasmin level may not be significantly accurate for definitive diagnosis in this age group.
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PMID:Laboratory measures of copper metabolism in the differentiation of chronic active hepatitis and Wilson disease in children. 43 Feb 91

Wilson disease is an inherited disorder of copper metabolism. Progress has been made in establishing the location of the gene on the long arm of chromosome 13, and in finding nearby probes that can be used to identify affected sibs of newly diagnosed patients. However, the gene has not been cloned, and the molecular nature of the defect remains unknown. The cause of the disease is a failure to excrete unneeded and excessive copper in the bile for loss in the stool. This may be due to a failure to excrete copper packaged in ceruloplasmin into the bile. Clinically, patients usually present during the second to fourth decades of life with liver, neurologic, or psychiatric disease, but the diagnosis is often missed or delayed. Once a diagnosis of Wilson disease is considered, reliable studies of copper variables can be carried out. After diagnosis, patients must receive anticopper treatment for the rest of their lives, to reduce copper levels and prevent copper reaccumulation. For life-long maintenance therapy, we recommend zinc acetate because of its complete efficacy and lack of toxicity; it acts by blocking copper absorption. For initial therapy of the acutely ill patient, no currently available therapy has proven to be ideal. A chelator-type drug, either penicillamine or trien, can be used for the initial therapy of patients who present with liver disease; transition to zinc acetate can then be made after a few months. For the initial therapy of acutely ill patients who present with neurologic disease, chelation should be avoided because neurologic worsening frequently occurs, probably due to redistribution of copper which temporarily raises the levels of copper in the brain. For initial treatment, zinc therapy is also not ideal because it is relatively slow-acting. A new experimental drug, tetrathiomolybdate, shows promise in the initial treatment of patients with Wilson disease. The major challenges ahead include closing the remaining therapeutic hiatuses, cloning and expressing the gene to understand its function, and improving clinical diagnosis so that therapy can be instituted as quickly as possible.
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PMID:Wilson disease. 163 39

Enzyme immunoassay for ceruloplasmin (CP)*, employing monospecific CP antibodies labeled with horse radish peroxidase was developed. This method permits to determine total content of CP, which is present in Wilson disease patients' blood in enzymatically active and enzymatically inactive forms. The evidence is presented that the method can be used for a direct determination of CP in blood serum. The minimal CP concentration which may be determined by enzyme immunoassay (IEA) is 5.10(-9) g/ml. The method was used for determination of CP concentrations in Wilson disease patients' blood with different disease severity. Analysis of blood samples taken from 6 Wilson disease patients with the use of IEA method revealed similar total CP concentrations. At the same time, the oxidase activities of CP in the blood of different patients varied more than sevenfold.
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PMID:Immunoenzyme determination of total serum ceruloplasmin. Application to Wilson disease. 188 96

The origin of the difference between the protective action of ceruloplasmin (CP) from healthy donors blood and of ceruloplasmin-like protein (p-CP) from blood of patients with Wilson disease which they exert during copper-induced lysis of red blood cells (RBC) was elucidated. The difference is due to a significant change in the carbohydrate moiety of p-CP the major proportion of which (65%) does not contain mannose and acetylglucosamine residues. The data of chromatography on lentil lectin reveal that only 4% of p-CP molecules contain the fragment [table: see text] required for binding to RBC receptors. It was shown that the time-courses of copper accumulation in RBC of normal donors and in RBC of patients with Wilson disease (p-RBC) during copper-induced lysis differ markedly from each other. The p-CP is able to prevent copper accumulation in RBC and p-RBC to a significantly less degree than CP. It was also established that CP prevents the decrease of reduced glutathione (GSH) level in RBC to a greater extent than p-CP. In contrast to CP, the p-CP exerts no effect on the decrease in GSH concentration in p-RBC. These results may indicate that no interaction between Cu2+ and reduced glutathione takes place in p-RBC, in contrast to the situation occurring in normal RBC.
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PMID:Interrelation between structure and protective action of normal and pathological ceruloplasmins during copper-induced lysis of red blood cells. 196 48

Wilson disease presenting as fulminant hepatic failure, severe hemolysis and renal failure is rare in the literature. A ten-year-old boy--complaining of abdominal pain, jaundice, tea-colored urine, and anemia was admitted to this hospital; examination showed Kayser-Fleischer rings, anemia associated with hemolysis, mildly elevated serum transaminases, extremely elevated bilirubin levels, low serum ceruloplasmin level, slightly elevated serum copper, excessive 24-hour urine copper excretion, and severe renal function insufficiencies. Under the impression of Wilson disease with fulminant hepatic failure, the patient was treated by oral D-penicillamine 1 gm per day, intravenous zinc sulphate (about 8 mg per day elemental zinc), and given other supportive treatment. Unfortunately, the patient died of hepatic failure complicated with septic shock 21 days after the onset of symptoms. Autopsy found liver copper content was 586.92 ug/gm dry weight and kidney copper content: 300.19 ug/gm dry weight, abnormally high as compared with normal tissue. A review of the literature led to conclusion that the best treatment for Wilson fulminant hepatic failure is liver transplantation.
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PMID:[Wilson disease presenting as fulminant hepatic failure, acute hemolytic anemia and renal failure: report of one case]. 226 86

The binding of the ceruloplasmin (CP) from the healthy donor's blood and of ceruloplasmin--like protein (p-CP) isolated from the Wilson disease patient's blood with erythrocytes (RBC) of healthy donors and with RBC of Wilson's patients (p-RBC) was investigated. It was shown, that the CP number of binding sites both on the RBC and p-RBC was significantly lower than that for p-CP, but Kd value for p-CP binding of the both types of erythrocytes was approximately 10 times higher than Kd value for CP. The protective action of CP on copper stimulated hemolysis is almost 3 times higher than that of p-CP. The protective action of CP on ferrous ion stimulated hemolysis doesn't correlate with its ferroxidase activity. On the contrary the protective effect of p-CP which has no ferroxidase activity is more powerful than that of CP.
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PMID:[Comparison of the protective effects on the erythrocytes of ceruloplasmin from the blood of healthy donors and patients with hepatocerebral dystrophy]. 227 84

Clinical and family history data on persons affected with Wilson disease (WD) living in Israel between 1958 and 1984 were ascertained from the literature, hospital records and neurological and gastroenterological clinics. From this population of 51 families, representing a diversity of Middle Eastern. North African and European backgrounds, blood samples were collected from affected individuals in 21 families, their parents, sibs and other relatives for quantitative determinations of plasma copper and ceruloplasmin, liver tests and DNA analysis. Although the majority of patients have the hepatic form of the disease, hepatic and neurological cases were found among all ethnic groups. In fact, affected sibs in several inbred families who most likely inherited two copies of the same mutant allele had different symptoms. Gene frequencies were calculated for each of the populations taking into account inbreeding, probability of ascertainment, and estimated incidence. Although many of these communities have gene frequencies which are comparable to worldwide estimates, high prevalence of disease is maintained by consanguineous mating patterns. Probabilities of WND genotypes were calculated for 129 unaffected relatives who had an a priori risk of inheriting at least one WND allele using information from 10 DNA markers closely linked to the WND locus. There was no evidence that multiple loci are responsible for the observed clinical variability in this sample of families. Furthermore, studies of serum copper and ceruloplasmin levels in unaffected relatives suggest that phenotypic variability in WD may be due in part to an interaction of the WND locus with other genetic or non-genetic modifiers such as age.
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PMID:Wilson's disease in Israel: a genetic and epidemiological study. 238 69

A 9-year-old boy presented with recurrent episodes of renal colic. One year later Wilson disease was diagnosed. Evaluation of liver function and assessment of serum copper, caeruloplasmin concentration and urinary copper excretion in any child presenting with nephrolithiasis is suggested.
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PMID:Hypercalciuria and nephrolithiasis as a presenting sign in Wilson disease. 259 10

The levels of copper and ceruloplasmin in the cerebrospinal fluid (CSF) of patients with Wilson disease were investigated. Ceruloplasmin concentrations in the CSF of all patients were almost the same but were lower than those of the controls. CSF copper concentrations in patients without neurologic signs were within the normal range, 22 +/- 6 ng/ml. In contrast, CSF copper concentrations in patients with neurologic signs (69-98 ng/ml) were significantly higher than the normal levels before and at the beginning of the treatment with D-penicillamine; it gradually decreased in response to treatment. These results suggest that the appearance of neurologic manifestations in Wilson disease is not related to the CSF ceruloplasmin concentration. The CSF copper concentration in this disease appears to reflect copper accumulation in the brain and may be useful as a marker for monitoring therapy.
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PMID:Does CSF copper level in Wilson disease reflect copper accumulation in the brain? 323 7

Wilson disease (WD) is an autosomal recessively inherited disorder of copper metabolism for which the basic defect is still unknown. Twenty-seven autosomal markers were investigated for linkage in a large inbred kindred with affected individuals in two generations. Also, serum copper and ceruloplasmin were measured on all available members. Close linkage (theta = 0.06) with a logarithm of odds (lod) score of 3.21 was found between the gene for WD and the esterase D locus. Efficient detection of linkage was made possible by the use of a multisibship inbred pedigree. The discovery of a polymorphic marker genetically linked to the WD locus has profound implications both for investigation of the primary gene defect and for clinical services.
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PMID:Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus. 385 63


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