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Xanthine Oxidase Deficiency
Xanthinuria, also known as xanthine oxidase deficiency, is a rare genetic disorder causing the accumulation of xanthine. It is caused by a deficiency of the enzyme xanthine oxidase. It was first formally characterized in 1954. Presentation Affected people have unusually high concentrations of xanthine in their blood and urine, which can lead to health problems such as renal failure and xanthine kidney stones, one of the rarest types of kidney stones. Causes Type I xanthinuria can be caused by a deficiency of xanthine oxidase, which is an enzyme necessary for converting xanthine to uric acid. Type II xanthinuria and molybdenum cofactor deficiency lack one or two other enzyme activities in addition to xanthine oxidase. Diagnosis Treatment There is no specific treatment beyond maintaining a high fluid intake and avoiding foods that are high in purine Purine is a heterocyclic aromatic organic compound that consists of two rings (pyrimidine and imidazole) fused together. It ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Xanthine
Xanthine ( or , from Ancient Greek for its yellowish-white appearance; archaically xanthic acid; systematic name 3,7-dihydropurine-2,6-dione) is a purine base found in most human body tissues and fluids, as well as in other organisms. Several stimulants are derived from xanthine, including caffeine, theophylline, and theobromine. Xanthine is a product on the pathway of purine degradation. * It is created from guanine by guanine deaminase. * It is created from hypoxanthine by xanthine oxidoreductase. * It is also created from xanthosine by purine nucleoside phosphorylase. Xanthine is subsequently converted to uric acid by the action of the xanthine oxidase enzyme. Use and production Xanthine is used as a drug precursor for human and animal medications, and is produced as a pesticide ingredient. Clinical significance Derivatives of xanthine (known collectively as xanthines) are a group of alkaloids commonly used for their effects as mild stimulants and as bronchodila ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Disorder
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be inherited from two parents who are carriers of a faulty gene ( autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). There are well over 6,000 known ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Xanthine
Xanthine ( or , from Ancient Greek for its yellowish-white appearance; archaically xanthic acid; systematic name 3,7-dihydropurine-2,6-dione) is a purine base found in most human body tissues and fluids, as well as in other organisms. Several stimulants are derived from xanthine, including caffeine, theophylline, and theobromine. Xanthine is a product on the pathway of purine degradation. * It is created from guanine by guanine deaminase. * It is created from hypoxanthine by xanthine oxidoreductase. * It is also created from xanthosine by purine nucleoside phosphorylase. Xanthine is subsequently converted to uric acid by the action of the xanthine oxidase enzyme. Use and production Xanthine is used as a drug precursor for human and animal medications, and is produced as a pesticide ingredient. Clinical significance Derivatives of xanthine (known collectively as xanthines) are a group of alkaloids commonly used for their effects as mild stimulants and as bronchodila ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Enzyme
An enzyme () is a protein that acts as a biological catalyst by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different molecules known as product (chemistry), products. Almost all metabolism, metabolic processes in the cell (biology), cell need enzyme catalysis in order to occur at rates fast enough to sustain life. Metabolic pathways depend upon enzymes to catalyze individual steps. The study of enzymes is called ''enzymology'' and the field of pseudoenzyme, pseudoenzyme analysis recognizes that during evolution, some enzymes have lost the ability to carry out biological catalysis, which is often reflected in their amino acid sequences and unusual 'pseudocatalytic' properties. Enzymes are known to catalyze more than 5,000 biochemical reaction types. Other biocatalysts include Ribozyme, catalytic RNA molecules, also called ribozymes. They are sometimes descr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Xanthine Oxidase
Xanthine oxidase (XO or XAO) is a form of xanthine oxidoreductase, a type of enzyme that generates reactive oxygen species. These enzymes catalyze the oxidation of hypoxanthine to xanthine and can further catalyze the oxidation of xanthine to uric acid. These enzymes play an important role in the catabolism of purines in some species, including humans. Xanthine oxidase is defined as an ''enzyme activity'' (EC 1.17.3.2). The same protein, which in humans has the HGNC approved gene symbol ''XDH'', can also have xanthine dehydrogenase activity (EC 1.17.1.4). Most of the protein in the liver exists in a form with xanthine dehydrogenase activity, but it can be converted to xanthine oxidase by reversible sulfhydryl oxidation or by irreversible proteolytic modification. "XDH xanthine dehydrogenase" Reaction The following chemical reactions are catalyzed by xanthine oxidase: * hypoxanthine + H2O + O2 xanthine + H2O2 * xanthine + H2O + O2 uric acid + H2O2 * Xanthine oxidase ca ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
The Lancet
''The Lancet'' is a weekly peer-reviewed general medical journal, founded in England in 1823. It is one of the world's highest-impact academic journals and also one of the oldest medical journals still in publication. The journal publishes original research articles, review articles ("seminars" and "reviews"), editorials, book reviews, correspondence, as well as news features and case reports. ''The Lancet'' has been owned by Elsevier since 1991, and its editor-in-chief since 1995 has been Richard Horton. The journal has editorial offices in London, New York City, and Beijing. History ''The Lancet'' was founded in 1823 by Thomas Wakley, an English surgeon who named it after the surgical instrument called a lancet (scalpel). According to BBC, the journal was initially considered to be radical following its founding. Members of the Wakley family retained editorship of the journal until 1908. In 1921, ''The Lancet'' was acquired by Hodder & Stoughton. Elsevier acquire ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Renal Failure
Kidney failure, also known as renal failure or end-stage renal disease (ESRD), is a medical condition in which the kidneys can no longer adequately filter waste products from the blood, functioning at less than 15% of normal levels. Kidney failure is classified as either acute kidney failure, which develops rapidly and may resolve; and chronic kidney failure, which develops slowly and can often be irreversible. Symptoms may include edema, leg swelling, feeling tired, vomiting, loss of appetite, and confusion. Complications of acute and chronic failure include uremia, hyperkalemia, and volume overload. Complications of chronic failure also include heart disease, high blood pressure, and anaemia. Causes of acute kidney failure include low blood pressure, blockage of the urinary tract, certain medications, muscle breakdown, and hemolytic uremic syndrome. Causes of chronic kidney failure include diabetic nephropathy, diabetes, high blood pressure, nephrotic syndrome, and polycyst ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Uric Acid
Uric acid is a heterocyclic compound of carbon, nitrogen, oxygen, and hydrogen with the Chemical formula, formula C5H4N4O3. It forms ions and salts known as urates and acid urates, such as ammonium acid urate. Uric acid is a product of the metabolic breakdown of purine nucleotides, and it is a normal component of urine. Hyperuricemia, High blood concentrations of uric acid can lead to gout and are associated with other medical conditions, including diabetes and the formation of ammonium acid urate kidney stones. Chemistry Uric acid was first isolated from kidney stones in 1776 by Swedish chemist Carl Wilhelm Scheele. In 1882, the Ukrainian chemist Ivan Horbaczewski first synthesized uric acid by melting urea with glycine. Uric acid displays lactam–lactim tautomerism. Uric acid crystallizes in the lactam form, with computational chemistry also indicating that tautomer to be the most stable. Uric acid is a diprotic acid with pKa, p''K''a1 = 5.4 and p''K''a2 =&nbs ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Molybdenum Cofactor Deficiency
Molybdenum cofactor deficiency is a rare human disease in which the absence of molybdopterin – and consequently its molybdenum complex, commonly called molybdenum cofactor – leads to accumulation of toxic levels of sulphite and neurological damage. Usually this leads to death within months of birth, due to the lack of active sulfite oxidase. Furthermore, a mutational block in molybdenum cofactor biosynthesis causes absence of enzyme activity of xanthine dehydrogenase/ oxidase and aldehyde oxidase. Symptoms and signs Cause When caused by a mutation in the MOCS1 gene it is the type A variant. It can also be caused by a mutation in the MOCS2 gene or the GPHN gene. As of 2010, there had been approximately 132 reported cases. It should not be confused with molybdenum deficiency. Diagnosis Diagnosis of molybdenum cofactor deficiency includes early seizures, low blood levels of uric acid, and high levels of sulphite, xanthine, and uric acid in urine. Additionally, the dise ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Purine
Purine is a heterocyclic aromatic organic compound that consists of two rings (pyrimidine and imidazole) fused together. It is water-soluble. Purine also gives its name to the wider class of molecules, purines, which include substituted purines and their tautomers. They are the most widely occurring nitrogen-containing heterocycles in nature. Dietary sources Purines are found in high concentration in meat and meat products, especially internal organs, such as liver and kidney, and in various seafoods, high-fructose beverages, alcohol, and yeast products. Examples of high-purine food sources include anchovies, sardines, liver, beef, kidneys, brains, monkfish, dried mackerel, and shrimp. Foods particularly rich in hypoxanthine, adenine, and guanine lead to higher blood levels of uric acid. Foods having more than 200 mg of hypoxanthine per 100 g, particularly animal and fish meats containing hypoxanthine as more than 50% of total purines, are more likely to increase uri ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
European Journal Of Inorganic Chemistry
The ''European Journal of Inorganic Chemistry'' is a weekly peer-reviewed scientific journal covering inorganic chemistry, inorganic, Organometallic chemistry, organometallic, Bioinorganic chemistry, bioinorganic, and solid-state chemistry. It is published by Wiley-VCH on behalf of Chemistry Europe. The journal, along with the ''European Journal of Organic Chemistry'', was established in 1998 as the result of a merger of ''Chemische Berichte, Chemische Berichte/Recueil,'' ''Bulletin de la Société Chimique de France,'' ''Bulletin des Sociétés Chimiques Belges,'' ''Gazzetta Chimica Italiana,'' ''Anales de Química,'' ''Chimika Chronika,'' ''Revista Portuguesa de Química, and'' ''ACH-Models in Chemistry.'' According to the ''Journal Citation Reports'', the journal has a 2021 impact factor of 2.551. See also *List of chemistry journals *''European Journal of Organic Chemistry'' References External links * {{DEFAULTSORT:European Journal Of Inorganic Chemistry Chemistry Eur ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
