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)

Copper deficiency was found in an adult patient who had received excessive daily oral zinc for 10 mo. The deficiency was characterized by hypochromic-microcytic anemia, leukopenia, and neutropenia. Although initially thought to be caused by iron deficiency, the anemia did not respond to oral or intravenous iron. Cessation of zinc tablets and ingestion of an oral copper preparation daily for 2 mo failed to correct the anemia or leukopenia. It was not until shortly after intravenous administration of a cupric chloride solution during a 5-day period, at a total dose of 10 mg, that serum copper and ceruloplasmin levels increased and the anemia, leukopenia, and neutropenia resolved. These data suggest that the elimination of excess zinc is slow and that, until such elimination occurs, the intestinal absorption of copper is blocked.
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PMID:Zinc-induced copper deficiency. 333 23

The clinical signs of camel sway disease in the Hexi Corridor of Gansu province were defined. The contents of eight minerals in soils, in forage and in the blood and hair of bactrian camels from this region were determined. The related blood indices were also measured. The concentration of molybdenum in soils and forage was 4.8 +/- 0.02 and 4.8 +/- 0.25 micrograms/g (dry matter), respectively, the copper to molybdenum ratio in the forage being only 1.3. The concentration of copper in blood and hair from the camels was 0.28 +/- 0.17 micrograms/ml and 3.50 +/- 1.00 micrograms/g, respectively. There was a hypochromic microcytic anaemia and a low level of ceruloplasmin in the blood. It is therefore suggested that sway disease of bactrian camels in this region is caused by secondary copper deficiency, mainly due to the high molybdenum content in soils and forage. The copper deficiency in the camels was aggravated during reproduction. Oral administration of copper sulphate can prevent and cure the disease.
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PMID:Studies on the relationship between sway disease of bactrian camels and copper status in Gansu province. 783 54

Hereditary aceruloplasminemia is an autosomal recessive disorder of iron homeostasis due to loss-of-function mutations in the ceruloplasmin gene. Affected individuals may present in adulthood with evidence of hepatic iron overload, diabetes, peripheral retinal degeneration, dystonia, dementia, or dysarthria. Laboratory studies demonstrate microcytic anemia, elevated serum ferritin, and a complete absence of serum ceruloplasmin ferroxidase activity. Consistent with the observed neurologic findings, magnetic resonance imaging reveals iron accumulation within the basal ganglia. Histologic studies detect abundant iron in hepatocytes, reticuloendothelial cells of the liver and spleen, beta cells of the pancreas, and astrocytes and neurons throughout the central nervous system. Characterization of this disorder reveals an essential role for ceruloplasmin in determining the rate of iron efflux from cells with mobilizable iron stores and provides new insights into the mechanisms of human iron metabolism.
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PMID:The copper-iron connection: hereditary aceruloplasminemia. 1238 3

We describe a novel missense mutation of ceruloplasmin in a patient with aceruloplasminaemia causing the replacement of a neutral amino acid (phenylalanine) with a polar one (serine) at position 198, probably leading to abnormal folding and secretion of the protein. The patient showed mild microcytic anaemia, mild hepatic iron overload, and marked brain iron overload. Six months of therapy with deferiprone was ineffective in removing iron from the tissues. Deferoxamine was more efficient in removing excess iron from the liver but aggravated the disease related anaemia. After more than one year of chelation treatment, the brain magnetic resonance imaging signal did not change. Overall, these findings indicate that treatment of iron overload in aceruloplasminaemia is a difficult challenge and that new iron chelators, more efficient in crossing the blood-brain barrier, are needed.
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PMID:Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation. 1508 97

Calprotectin, also known as the S100A8/A9 or MRP8/14 complex, is a major calcium-binding protein in the cytosol of neutrophils, monocytes, and keratinocytes. It differs from other S100 proteins in its zinc-binding capacity. The authors describe a 4-year-old girl with severe anemia, neutropenia, inflammation, and severe growth failure. Bone marrow examination showed moderate dyserythropoiesis. No hemolysis, iron deficiency, hemoglobinopathies, immunologic diseases, or autoantibodies were detected. Serum levels of copper and ceruloplasmin were within the normal range, although the serum zinc concentration was markedly increased (310 microg/dL). Urinary zinc excretion and erythrocyte zinc concentrations were within the normal range. Family studies showed normal zinc and copper plasma levels. The patient's plasma calprotectin concentration showed a 6,000-fold increase (2,900 mg/L) compared with normal values. The calprotectin concentration is known to be elevated in many inflammatory conditions but is generally below 10 mg/L and thus far below the levels reported in this patient. The authors describe this case as an inborn error of zinc metabolism caused by dysregulation of calprotectin metabolism, which mainly presented with the features of microcytic anemia and inflammation.
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PMID:Severe anemia and neutropenia associated with hyperzincemia and hypercalprotectinemia. 1618 40

The clinical signs of a disorder known locally as "shakeback disease" in yaks in the North of the Qing Hai-Tibetan Plateau of China were defined: they included emaciation, unsteady gait, a 'shivering' back and deprived appetites. Coat colour was not affected. The mineral composition of soil and forages, and samples of blood and hair from yaks in affected ranches in this region were compared with those of 20 samples from unaffected areas. The mean concentration of molybdenum (Mo) in soil and forage was 4.85+/-0.21 and 4.96+/-0.25 microg/g (dry matter), respectively; the mean copper (Cu) to Mo ratio in the forage was only 1.34+/-0.36 compared to 8.12+/-1.31 for unaffected areas. The mean concentrations of Cu in blood and hair from the affected yaks were 0.29+/-0.17 and 3.51+/-1.12 microg/g, respectively, compared with 0.85+/-0.24 and 6.42+/-1.21 microg/g, for controls. The highest value for Cu in the blood of affected yaks was 0.58 mug/g and the lowest 0.03 microg/g (the corresponding highest values for unaffected yaks were 1.03 mug/g, the lowest 0.56 microg/g). There was a hypochromic microcytic anaemia and a low level of ceruloplasmin in the blood. The Cu deficiency in yaks was most severe during pregnancy and lactation, but oral administration of copper sulphate prevented and cured the disease. We conclude that "shakeback disease" of yaks in this region is probably caused by a secondary Cu deficiency, mainly due to the high Mo content in soils and forage.
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PMID:Studies of a naturally occurring molybdenum-induced copper deficiency in the yak. 1649 Jul 20

The clinical signs of a disorder in yaks (Bos grunniens), known locally as "swayback ailment," in the Qing Hai-Tibetan Plateau are described. The purpose of this study is to investigate the possibility that swayback ailment is iron (Fe)-induced copper (Cu) deficiency. The mean concentrations of Cu in soil and forage from affected areas and unaffected areas are similar and within the normal ranges. The mean concentrations of Cu in blood and hair from the affected yaks was significantly lower (P < 0.01) than that in unaffected yaks. The mean concentrations of Fe in soil and forage were significantly higher (P < 0.01) in affected than in unaffected areas. Affected yaks showed a hypochromic microcytic anemia and a low level of ceruloplasmin. Oral administration of copper sulphate prevented and cured the disease. We conclude that "swayback disorder" of yaks is caused by secondary Cu deficiency, mainly due to the high Fe content in forage.
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PMID:Copper deficiency in yaks on pasture in western China. 1701 58

In a search for genes that modify iron homoeostasis, a gene (1300017J02Rik) was located immediately upstream of the murine TF (transferrin) gene. However, expression of the 1300017J02Rik gene product was not responsive to a number of modulators of iron metabolism. Specifically, expression was not altered in mouse models of iron disorders including mice with deficiencies in the haemochromatosis protein Hfe, the recombination-activating protein, Rag, beta2-microglobulin, TF, ceruloplasmin or Hb, or in mice with microcytic anaemia. Additionally, neither lipopolysaccharide nor hypoxia treatment resulted in any significant changes in the 1300017J02Rik expression level. The genomic DNA sequence suggested that the 1300017J02Rik gene product might be a protein equivalent to the pICA {porcine ICA [inhibitor of CA (carbonic anhydrase)]}. The coding region for the murine 1300017J02Rik gene was placed into the pNUT expression vector. Transformed BHK cells (baby-hamster kidney cells) were transfected with this plasmid, resulting in secretion of recombinant mICA (murine ICA) into the tissue culture medium. Following purification to homogeneity, the yield of mICA from the BHK cells was found to be considerably greater (at least 4-fold) than the yield of pICA from a previously reported Pichia pastoris (yeast) expression system. MS showed that the recombinant mICA was a glycoprotein that associated with CA in a 1:1 stoichiometry. Despite its high sequence similarity to TF, titration experiments showed that mICA was unable to bind iron specifically. Although enzymatic assays revealed that mICA was able to inhibit CA, it is unclear if this is its sole or even its major function since, to date, humans and other primates appear to lack functional ICA. Lastly, we note that this member of the TF superfamily is a relatively recent addition resulting from a tandem duplication event.
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PMID:A novel murine protein with no effect on iron homoeostasis is homologous with transferrin and is the putative inhibitor of carbonic anhydrase. 1751 19

The Przewalski's gazelles in the Hudong area of the Qinghai Lake area in China were affected by an ailment characterized by pica, emaciation, dyskinesia, loss of appetite, and anemia. Concentrations of copper (Cu) in soil and forage from affected and unaffected areas were similar and within the normal range, but concentrations of sulfur (S) in soil and forage were significantly higher (P < 0.01) in affected than in unaffected areas. Concentrations of Cu in blood, hair, and liver from the affected Przewalski's gazelles were significantly lower (P < 0.01) than those in healthy animals. Affected Przewalski's gazelles showed a hypochromic microcytic anemia and a low level of ceruloplasmin. Oral administration of copper sulphate (CuSO(4)) prevented and cured the disease. We conclude that the disorder of Przewalski's gazelles was caused by secondary Cu deficiency, mainly due to high S content in forage.
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PMID:Studies of a naturally occurring sulfur-induced copper deficiency in Przewalski's gazelles. 2019 Sep 76

A 52-year-old Japanese woman being treated for type 1 diabetes showed forgetfulness and microcytic anemia with a high serum ferritin concentration. Serum and brain radiological examinations revealed aceruloplasminemia, which was confirmed by genetic testing. Aceruloplasminemia is characterized by the triad of retinal degeneration, diabetes mellitus, and adult-onset disorder of the extrapyramidal system. Though physicians should treat such patients earlier, it is difficult to diagnose the disease before the presentation of neurological symptoms. Despite the presence of microcytic anemia, aceruloplasminemia patients usually have a high serum ferritin concentration due to the complete absence of ceruloplasmin ferroxidase activity. Thus, physicians should consider aceruloplasminemia when diabetic patients present with microcytic anemia and a high serum ferritin concentration.
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PMID:Criteria for early identification of aceruloplasminemia. 2172 62


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