Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In this study we report an individual of Wilson's disease associated with olfactory paranoid syndrome and idiopathic thrombocytopenic purpura. The initial symptom of this female patient was olfactory paranoia at age 17. Although that psychiatric symptom was well controlled under pharmacological treatment for two years, she developed olfactory paranoia as well as sialorrhea, dysarthria and finger tremor at age 20. A year later rigidity was also present in the extremities. At age 23, idiopathic thrombocytopenic purpura was found based on hematological examinations. Because her extrapyramidal symptoms were progressive, she was referred to our department to evaluate her neurologic condition. She was diagnosed as having Wilson's disease based on (1) the presence of Kayser-Fleischer rings, (2) extrapyramidal signs, and (3) a decreased level of serum copper and ceruloplasmin. T2 and FLAIR images of brain MRI showed hyperintense lesions in the putamen, thalamus and pontine tegmentum. Diffusion-weighted images also showed hyperintense lesions in the thalamus and pontine tegmentum. The biopsy specimen of the liver revealed chronic hepatitis with copper accumulation. Since D-penicillamine treatment was initiated, she has shown no olfactory paranoia and exacerbation of ITP. Her gait disturbance has also improved. Olfactory paranoia and ITP are rare clinical complications of Wilson's disease. Further analysis may warrant consideration of the pathophysiological mechanism of the psychiatric, hematological and neuroradiological condition seen in Wilson's disease.
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PMID:[Wilson's disease associated with olfactory paranoid syndrome and idiopathic thrombocytopenic purpura]. 1463 19

Wilson's disease is a genetic disorder of copper metabolism with a hepatic or neurologic presentation. A hepatic presentation is more common in young children. Neurologic Wilson's disease often manifests as a movement disorder with dystonia, tremor, and dysarthria. Psychiatric or behavioral symptoms can also be a presenting feature of Wilson's disease. We describe an atypical neurologic presentation in a prepubertal child with minimal hepatic involvement; in which transient hemiparesis and encephalopathy dominated her initial neurologic presentation. Brain magnetic resonance imaging revealed extensive cortical and subcortical signal change, in addition to the classical basal ganglia signal abnormality observed in Wilson's disease. She was treated with oral tetrathiomolybdate anticopper therapy, followed by zinc maintenance. Her clinical status and brain imaging improved considerably at 1 year after treatment initiation. Neurologic Wilson's disease may have diverse presentations, and should be considered in children who present with cortical features and signal change on magnetic resonance imaging.
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PMID:Atypical childhood Wilson's disease. 1473 53

Bentonite clay has been used for the adsorption of Fe(II) from aqueous solutions over a concentration range of 80-200 mg/l, shaking time of 1-60 min, adsorbent dosage from 0.02 to 2 g and pH of 3. The process of uptake follows both the Langmuir and Freundlich isotherm models and also the first-order kinetics. The maximum removal (>98%) was observed at pH of 3 with initial concentration of 100 mg/l and 0.5 g of bentonite. The efficiency of Fe(II) removal was also tested using wastewater from a galvanized pipe manufacturing industry. More than 90% of Fe(II) can be effectively removed from the wastewater by using 2.0 g of the bentonite. The effect of cations (i.e. zinc, manganese, lead, cadmium, nickel, cobalt, chromium and copper) on the removal of Fe(II) was studied in the concentration range of 10-500 mg/l. All the added cations reduced the adsorption of Fe(II) at high concentrations except Zn. Column studies have also been carried out using a certain concentration of wastewater. More than 99% recovery has been achieved by using 5 g of the bentonite with 3M nitric acid solution.
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PMID:Removal of Fe(II) from the wastewater of a galvanized pipe manufacturing industry by adsorption onto bentonite clay. 1553 87

Wilson's disease is a rare autosomal recessive disease of copper accumulation and copper toxicity, due to mutations in the ATP7B gene, which leads to a failure of copper excretion in the bile. It presents clinically primarily as liver disease, psychiatric disease, neurological disease, or a combination of these. The neurological disease is a movement disorder, with abnormalities of speech, tremor, incoordination and dystonia being common features. Diagnosis of neurologically presenting patients is usually straightforward, with Kayser-Fleischer rings and a urine copper over 100 microg/day almost invariably present. In the treatment of neurologically presenting patients, penicillamine should always be avoided, because of the high risk of permanent, drug-induced, additional neurological deterioration. A new drug we have developed, tetrathiomolybdate, given for 8-16 weeks, in combination with zinc, is our first choice for treating these patients. In the absence of availability of tetrathiomolybdate, zinc or trientine are the next best choices.
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PMID:Neurologically presenting Wilson's disease: epidemiology, pathophysiology and treatment. 1574 Jan 74

Wilson's disease and Menkes disease are inherited genetic disorders of copper metabolism. Each disease results from the absence or dysfunction of homologous copper-transporting ATPases present in the trans-Golgi network of cells. The Wilson ATPase transports copper into the hepatocyte secretory pathway for incorporation into ceruloplasmin and excretion into the bile. Thus, patients with Wilson's disease of the autosomal recessive trait present with signs and symptoms arising from impaired biliary copper excretion. The Menkes ATPase transports copper across the placenta, gastrointestinal tract, and blood-brain barrier, and the clinical features of this X-linked disease arise from copper deficiency. Despite striking differences in the clinical presentation of these two diseases, the respective ATPases function in precisely the same fashion within the cell. The different clinical features of each disease are the results of the tissue specific expression of these ATPases. In Wilson's disease, impaired biliary copper excretion leads to accumulation of this metal in the liver. When the capacity for hepatic storage is exceeded, cell death ensues, with copper release into the plasma resulting in hemolysis and deposition of copper in extrahepatic tissues. Affected patients usually present in the first or second decade of life with chronic hepatitis and cirrhosis or acute liver failure. Copper accumulation in the cornea results in Kayser-Fleischer rings. Neuropsychiatric symptoms are more common in adults and include dystonia, tremor, personality changes, and cognitive impairment as a results of copper accumulation in the basal ganglia and other brain regions. The diagnosis of Wilson's disease is confirmed by decreased serum ceruloplasmin, increased urinary copper, and elevated hepatic copper concentration. A large number of different mutations occur in the genes of patients with Wilson disease. Copper chelation drugs and zinc are effective in most cases. New treatment guidelines now advise physicians to start patients on zinc.
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PMID:[Genetic disorders of copper transport--diagnosis and new treatment for the patients of Wilson's disease]. 1577 21

Wilson disease is an autosomal recessive inherited disorder of human copper metabolism that leads to neurological symptoms and hepatic damage of variable degree. The affected gene ATP7B encodes a hepatic copper transport protein, which plays a key role in human copper metabolism. Clinical symptoms are complex with neurologic symptoms such as tremor, dysarthria, psychiatric disorders etc., predominant hepatic disease or mixed forms. Copper deposition in the liver results in acute liver failure, chronic hepatitis or liver cirrhosis. Early recognition by means of clinical, biochemical or genetic examination and early initiation of therapy with chelators or zinc-salts are essential for outcome and prognosis. Liver transplantation is an alternative in cases with acute and chronic liver failure and cures the hepatic disease. Frequent monitoring of drug therapy, adverse effects, and compliance is critical for the prognosis of the disease.
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PMID:[Wilson disease]. 1591 61

The culture medium for Streptomyces lavendulae ATCC 13664 was optimized on a shake-flask scale by using a statistical factorial design for enhanced production of penicillin acylase. This extracellular enzyme recently has been reported to be a penicillin K acylase, presenting also high hydrolytic activity against penicillin V and other natural aliphatic penicillins such as penicillin K, penicillin F, and penicillin dihydroF. The factorial design indicated that the main factors that positively affect penicillin acylase production by S. lavendulae were the concentration of yeast extract and the presence of oligoelements in the fermentation medium, whereas the presence of olive oil in the medium had no effect on enzyme production. An initial concentration of 2.5% (w/v) yeast extract and 3 microg/mL of CuSO4 x 5H2O was found to be best for acylase production. In such optimized culture medium, fermentation of the microorganism yielded 289 IU/L of enzyme in 72 h when employing a volume medium/volume flask ratio of 0.4 and a 300-rpm shaking speed. The presence of copper, alone and in combination with other metals, stimulated biomass as well as penicillin acylase production. The time course of penicillin acylase production was also studied in the optimized medium and conditions. Enzyme production showed catabolite repression by different carbon sources such as glucose, lactose, citrate, glycerol, and glycine.
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PMID:Optimization of culture medium and conditions for penicillin acylase production by Streptomyces lavendulae ATCC 13664. 1611 66

A sensitive spectrophotometric method for the determination of freely dissolved copper concentrations in aqueous samples after preconcentration with hollow fiber membrane extraction has been developed. The method is based on the equilibrium sampling through a selective membrane into an acceptor solution containing 4-(pyridyl-2-azo)resorcinol (PAR), which serves as stripping agent and metal indicator. Negligible extraction of interferences and equilibrium enrichment of copper allowed for selective spectrophotometric determination of the Cu-PAR complex. Some important extraction parameters such as acceptor composition, shaking, equilibrium time, and sample volume were studied. The optimized methodology showed good linearity in the range of 5-100 microg/L, an enrichment factor of 93, good repeatability and reproducibility (RSDs < 6%, n = 6), and a detection limit of 4 microg/L. The cationic metals Ni2+, C(2+, Cd2+, Fe3+, Pb2+, Zn2+, and Mn2+ were shown not to interfere with the measurement of Cu2+. Measurements on samples containing mixtures of various ligands and cations were in good agreement with theoretically calculated concentrations, and the method was also applied to environmental samples. The developed technique requires less labor and less sophisticated equipment than conventional methods typically based on atomic absorption spectrometry or ICP.
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PMID:Equilibrium sampling through membranes of freely dissolved copper concentrations with selective hollow fiber membranes and the spectrophotometric detection of a metal stripping agent. 1631 67

Wilson's disease (hepatolenticuler degeneration), an inborn error of copper metabolism, is an autosomal recessive disorder characterized by degenerative changes in brain, liver disease and Kayser Fleisher (KF) rings in the cornea. It is due to a defect of p-type ATPase which is probably required for normal extrusion of copper from cells. In this case report, we present a seven and half year old male who presented with complaints of slurring of speech, drooling of saliva, intentional tremor and dark pigmentation over face and trunk for last 9 months. On examination KF ring was present, spleen was palpable and intentional tremor was present. Laboratory investigations confirmed the diagnosis.
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PMID:A case report of Wilson's disease. 1634 Feb 61

The polymorphism in the human prion protein gene at codon 129 (PRNP 129) determines susceptibility to prion disease, and has been associated with early onset and a more severe course of other neurodegenerative disorders. Here, we tested the hypothesis that PRNP is a disease-modifying gene in clinical Wilson disease with a neurological phenotype. Allele frequencies in patients with clinical Wilson disease were not different from those of a healthy German control population, and PRNP 129 genotypes did not result in different serum copper, serum ceruloplasmin, or copper in 24-h urine concentrations. PRNP 129 methionine homozygosity, however, led to significantly more severe neurological symptoms in elderly patients, particularly tremor, supporting the notion that PRNP 129 homozygosity contributes to neuronal vulnerability.
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PMID:Prion protein gene codon 129 modulates clinical course of neurological Wilson disease. 1654 24


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