|
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. 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 GEPH 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 disease produces characteristic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch tics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine. Scope Medical genetics encompasses many different areas, including clinical practice of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Molybdenum Deficiency
Molybdenum deficiency refers to the clinical consequences of inadequate supplies of molybdenum in the diet. The amount of molybdenum required is relatively small, and molybdenum deficiency usually does not occur in natural settings. However, it can occur in individuals receiving parenteral nutrition. Signs and symptoms Descriptions of human molybdenum deficiency are few. A patient receiving prolonged parenteral nutrition acquired a syndrome described as ‘acquired molybdenum deficiency.’ This syndrome, exacerbated by methionine administration, was characterized by high blood methionine, low blood uric acid, and low urinary uric acid and sulfate concentrations. The patient suffered mental disturbances that progressed to a coma. Pathological changes occurring in individuals with a genetic disease that results in a sulfite oxidase (a molybdoenzyme) deficiency include increased plasma and urine sulfite, sulfate, thiosulfate, S-sulfocysteine and taurine; seizures, and brain atrophy/ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cyclic Pyranopterin Monophosphate
Fosdenopterin (or cyclic pyranopterin monophosphate, cPMP), sold under the brand name Nulibry, is a medication used to reduce the risk of death due to a rare genetic disease known as molybdenum cofactor deficiency type A. The most common side effects include complications related to the intravenous line, fever, respiratory infections, vomiting, gastroenteritis, and diarrhea. Fosdenopterin was approved for medical use in the United States in February 2021, It is the first medication approved by the U.S. Food and Drug Administration (FDA) for the treatment of molybdenum cofactor deficiency type A. and in the European Union in September 2022. The US Food and Drug Administration considers it to be a first-in-class medication. Medical uses Fosdenopterin is indicated to reduce the risk of mortality in people with molybdenum cofactor deficiency (MoCD) type A. Mechanism of action People with molybdenum cofactor deficiency type A cannot produce cyclic pyranopterin monophosphate ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Monash Children's Hospital
Monash Children's Hospital is a major children's hospital in Melbourne, Australia. Monash Children's Hospital is part of Monash Health, Victoria's largest healthcare service and one of only four accredited Academic Health Science Centres in Australia. The hospital includes Victoria's largest Neonatal Intensive Care Unit and provides a full range of specialist services including surgical care, oncology, and rehabilitation services. It is home to Victoria's only dedicated children's sleep science, is a state-wide referral service for thalassemia, and is a provider of fetal surgery services in partnership with Royal Women's Hospital and Mercy Hospital for Women, Melbourne. Its services are linked to an adult service, allowing the hospital to provide transition-of-care as children grow older and move to an adult service. New Monash Children's Hospital After providing services from within adult hospitals for many years, in 2017 the purpose-built Monash Children's Hospital was op ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Food And Drug Administration
The United States Food and Drug Administration (FDA or US FDA) is a List of United States federal agencies, federal agency of the United States Department of Health and Human Services, Department of Health and Human Services. The FDA is responsible for protecting and promoting public health through the control and supervision of food safety, tobacco products, caffeine products, dietary supplements, Prescription drug, prescription and Over-the-counter drug, over-the-counter pharmaceutical drugs (medications), vaccines, biopharmaceuticals, blood transfusions, medical devices, electromagnetic radiation emitting devices (ERED), cosmetics, Animal feed, animal foods & feed and Veterinary medicine, veterinary products. The FDA's primary focus is enforcement of the Federal Food, Drug, and Cosmetic Act (FD&C), but the agency also enforces other laws, notably Section 361 of the Public Health Service Act, as well as associated regulations. Much of this regulatory-enforcement work is not d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fosdenopterin
Fosdenopterin (or cyclic pyranopterin monophosphate, cPMP), sold under the brand name Nulibry, is a medication used to reduce the risk of death due to a rare genetic disease known as molybdenum cofactor deficiency type A. The most common side effects include complications related to the intravenous line, fever, respiratory infections, vomiting, gastroenteritis, and diarrhea. Fosdenopterin was approved for medical use in the United States in February 2021, It is the first medication approved by the U.S. Food and Drug Administration (FDA) for the treatment of molybdenum cofactor deficiency type A. and in the European Union in September 2022. The US Food and Drug Administration considers it to be a first-in-class medication. Medical uses Fosdenopterin is indicated to reduce the risk of mortality in people with molybdenum cofactor deficiency (MoCD) type A. Mechanism of action People with molybdenum cofactor deficiency type A cannot produce cyclic pyranopterin monophosphate ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Urine
Urine is a liquid by-product of metabolism in humans and in many other animals. Urine flows from the kidneys through the ureters to the urinary bladder. Urination results in urine being excretion, excreted from the body through the urethra. Cell (biology), Cellular metabolism generates many by-products that are rich in nitrogen and must be clearance (medicine), cleared from the Circulatory system, bloodstream, such as urea, uric acid, and creatinine. These by-products are expelled from the body during urination, which is the primary method for excreting water-soluble chemicals from the body. A urinalysis can detect nitrogenous wastes of the mammalian body. Urine plays an important role in the earth's nitrogen cycle. In balanced ecosystems, urine fertilizes the soil and thus helps plants to grow. Therefore, Reuse of excreta, urine can be used as a fertilizer. Some animals use it to territory (animal)#Scent marking, mark their territories. Historically, aged or fermented urine (kn ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Xanthine
Xanthine ( or ; archaically xanthic acid; systematic name 3,7-dihydropurine-2,6-dione) is a purine base (genetics), 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 manufacturing Xanthine is used as a drug precursor (chemistry), precursor for human and animal medications, and is manufactured 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 bronchodilators, notably in the t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Uric Acid
Uric acid is a heterocyclic compound of carbon, nitrogen, oxygen, and hydrogen with the 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. 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 (also often described as keto–enol tautomerism). Although the lactim form is expected to possess some degree of aromaticity, uric acid crystallizes in the lactam form, with computational chemistry also indicating that tautomer to be the most s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GEPH
Gephyrin is a protein that in humans is encoded by the ''GPHN'' gene. This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperekplexia and also lead to molybdenum cofactor deficiency. Gene Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. The production of alternatively spliced variants is affected by noncoding regions within the gene. A ‘yin-yang’ noncoding sequence pair encompassing ''gephyrin'' has been identified.* These sequences are opposites of each other - consisting of hundreds of divergent nucleotide states. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Molybdopterin
Molybdopterins are a class of cofactors found in most molybdenum-containing and all tungsten-containing enzymes. Synonyms for molybdopterin are: MPT and pyranopterin-dithiolate. The nomenclature for this biomolecule can be confusing: Molybdopterin itself contains no molybdenum; rather, this is the name of the ligand (a ''pterin'') that will bind the active metal. After molybdopterin is eventually complexed with molybdenum, the complete ligand is usually called molybdenum cofactor. Molybdopterin consists of a pyranopterin, a complex heterocycle featuring a pyran fused to a pterin ring. In addition, the pyran ring features two thiolates, which serve as ligands in molybdo- and tungstoenzymes. In some cases, the alkyl phosphate group is replaced by an alkyl diphosphate nucleotide. Enzymes that contain the molybdopterin cofactor include xanthine oxidase, DMSO reductase, sulfite oxidase, and nitrate reductase. The only molybdenum-containing enzymes that do not feature molybdopteri ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MOCS2
Molybdenum cofactor synthesis protein 2A and molybdenum cofactor synthesis protein 2B are a pair of proteins that in humans are encoded from the same ''MOCS2'' gene.: MOCS2 molybdenum cofactor synthesis 2 These two proteins dimerize to form molybdopterin synthase. Function Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin and the catalytically active metal molybdenum. MoCo is synthesized from cyclic pyranopterin monophosphate (precursor Z) by the heterodimeric enzyme molybdopterin synthase. Gene The large and small subunits of molybdopterin synthase are both encoded from the MOCS2 gene by overlapping open reading frames. The proteins were initially thought to be encoded from a bicistronic transcript. They are now thought to be encoded from monocistronic transcripts. Alternatively spliced transcripts have been found for this locus that encode the large and small subunits. The MOCS2 gene contains 7 exons. Exons 1 to 3 encode MOCS2A (the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
.jpg "Click for more on -> Food And Drug Administration")
