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Encyclopedia results for Fumarase deficiency

Fumarase deficiency





Encyclopedia results for Fumarase deficiency

  1. Fumarase deficiency

    Infobox disease Name Fumarase deficiency Image Fumarate wpmp.png Caption Fumarate is converted to malate by fumarase Width 72px DiseasesDB 29835 ICD10 ICD9 ICDO OMIM 606812 MedlinePlus eMedicineSubj eMedicineTopic MeshID Fumarase deficiency or fumaric aciduria is an autosomal recessive metabolic disorder characterized by a deficiency of the enzyme fumarate hydratase , which is indicated by a build up of fumaric acid in the urine . Pathophysiology Fumarase deficiency is caused by a mutation in the fumarate ... and renal cell cancer . ref OMIM 606812 Fumarase Deficiency ref Fumarase deficiency is one ... Fumarase deficiency has an autosomal recessive pattern of Heredity inheritance . The condition is an autosomal ... M, et al. title Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial ... of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency ... author Zeng WQ, Gao H, Brueton L, et al. title Fumarase deficiency caused by homozygous P131R ... 9 pages 1004 9 year 2006 pmid 16575891 doi 10.1002 ajmg.a.31186 ref Presentation Fumarase deficiency ... HLRCC tumor syndrome and congenital fumarase deficiency journal BMC Med. Genet. volume 9 issue ..., CR, Stephens, K title Fumarate Hydratase Deficiency date 1993 pmid 20301679 ref Emergence in a polygamist settlement Fumarase deficiency is extremely rare, with only thirteen diagnosed and identified ... article 195535 Mormon Sect s Polygamy Causes Most Of The World s Fumarase Deficiency Cases , Digital ... in FLDS towns Fumarase Deficiency afflicts 20, is linked to marriages of close Kin By John Hollenhorst ... difficulties. This sibling also turned out to have fumarase deficiency. ref name Dougherty2005 ... mitosyn.html fumaratehydratase Mitochondrial Disorders Fumarase Deficiency at Washington University ... R, Robinson BH, Stacey TE, Mistry J, Chalmers RA title Deficient fumarase activity in an infant with fumaricacidemia ... 2 Y ref due to an abnormally low amount of fumarase in cells. It can initially present with polyhydraminos ...   more details



  1. Fumarase

    name pmid12021453 Clinical significance Fumarase deficiency is characterized by polyhydramnios and fetal ..., poor feeding, failure to thrive, and hypotonia . Fumarase deficiency is suspected in infants with multiple ... of fumaric acid on urine organic acid analysis is highly suggestive of fumarase deficiency. Molecular genetic testing for fumarase deficiency is currently available. ref name urlFH fumarate hydratase ... deficiency . Germinal mutations in fumarase are associated with two distinct conditions. If the enzyme has missense mutation and in frame deletions from the 3 end, fumarase deficiency results ... deficiency References reflist External links MeshName Fumarase http www.biocheminfo.org klotho ... 1 2 GO code 0004333 image width caption Pfam box Symbol Fumarase Name Fumarate hydratase Fumarase image FumaraseDimer.png width caption Structure of yeast fumarase. ref name pmid9665847 Based on PDB ... and recombinant yeast fumarase journal J. Mol. Biol. volume 280 issue 3 pages 431 42 year 1998 ... 2FUS , PDB2 2ISB , PDB2 3E04 protein Name Fumarate hydratase caption Fumarase active site ref name ... LocusSupplementaryData stack end Fumarase or fumarate hydratase is an enzyme that catalyzes the reversible Hydration reaction hydration dehydration of Fumarate to S malate . Fumarase comes in two forms ... of this enzyme class is S malate hydro lyase fumarate forming . Other names in common use include fumarase ... 2 Conversion of fumarate to S malate by fumarase through a carbanion intermediate. Figure 2 depicts the fumarase reaction mechanism. Two acid base groups catalyze proton transfer, and the ionization ..., the reaction mechanism of fumarase is not completely understood. The reaction itself can be monitored ... pages quote isbn 0 7167 0070 0 oclc doi url accessdate ref Biochemical pathway The function of fumarase ... and kinetic correlation of a clinically observed human fumarase mutation journal Protein Sci ... site on fumarase is known as catalytic site A. Studies have revealed that catalytic site A is composed ...   more details



  1. Deficiency

    Wiktionary A deficiency is a lack of something. Example There is a deficiency of vitamin D in his diet In mathematics, a deficient number is a number n for which n     2 n . In medicine there are a variety of nutrient deficiencies Avitaminosis is a deficiency of vitamins. Boron deficiency medicine Chromium deficiency Iron deficiency medicine Iodine deficiency Magnesium deficiency medicine Micronutrient deficiency In construction , a deficiency is an item, or condition that is considered sub standard, or below minimum expectations, such as those mandated by either drawing s or specification s or the building code or the fire code, and or any combination of the foregoing. Deficiencies are routinely discussed and dealt with in construction site meeting s. In genetics, a genetic deletion is also called a Deficiency. In real estate law , a deficiency in the ability to pay off a debt is called a deficiency judgment or deficiency judgement. disambig ar de Mangel es Deficiencia nl Defici ntie no Mangel ...   more details



  1. Calcium deficiency

    Calcium deficiency may refer to Calcium deficiency plant disorder Calcium deficiency a plant disorder Hypocalcaemia the presence of low serum calcium levels in the blood disambig ...   more details



  1. Boron deficiency

    Boron deficiency may refer to Boron deficiency plant disorder , a nutritional disorder in plants Boron deficiency medicine , a nutritional disorder in animals disamb ...   more details



  1. Manganese deficiency

    Insufficient manganese is a problem in both humans and plants. Manganese deficiency medicine Manganese deficiency plant disambig ...   more details



  1. Potassium deficiency

    Potassium deficiency has two different contexts For the medical condition in humans, see hypokalemia Potassium deficiency plants , the disease in plants disambig ...   more details



  1. Mineral deficiency

    Infobox Disease Name Mineral deficiency Image Caption DiseasesDB ICD10 ICD10 E 58 e 50 ICD10 E 61 e 50 ICD9 ICD9 269.3 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID Mineral deficiency refers to a hypoalimentation of dietary mineral s. ref name urlIntroduction Mineral Deficiency and Toxicity Merck Manual Professional cite web url http www.merck.com mmpe sec01 ch005 ch005a.html title Introduction Mineral Deficiency and Toxicity Merck Manual Professional work accessdate 2008 11 29 ref Examples include Zinc deficiency Iron deficiency medicine Iron deficiency Magnesium deficiency medicine Magnesium deficiency References reflist Nutritional pathology Category Nutritional deficiencies medicine stub ...   more details



  1. Micronutrient deficiency

    A micronutrient deficiency or trace mineral deficiency is a Physiological plant disorders physiological plant disorder which occurs when a micronutrient is deficient in the soil in which a plant grows. Micronutrients are distinguished from macronutrient s such as nitrogen , phosphorus , and potassium by the relatively low quantities needed by the plant. A number of elements are known to be needed in these small amounts for proper plant growth and development. ref http 4e.plantphys.net article.php?ch t&id 289 A Companion to Plant Physiology, Fourth Edition. Wade Berry, UCLA. Topic 5.1 Symptoms of Deficiency In Essential Minerals. Sinauer Publishing. ref Nutrient deficiencies in these areas can adversely affect plant growth and development. Some of the best known trace mineral deficiencies include Boron deficiency plant disorder boron deficiency , Calcium deficiency plant disorder calcium deficiency , Iron deficiency plant disorder iron deficiency , magnesium deficiency , and Manganese deficiency plant manganese deficiency . List of essential trace minerals for plants Boron is believed to be involved in carbohydrate transport in plants it also assists in metabolic regulation. Boron deficiency will often result in bud dieback. Calcium Chlorine is necessary for osmosis and ionic balance it also plays a role in photosynthesis . Cobalt is essential to plant health. Cobalt is thought to be an important catalyst in nitrogen fixation. It may need to be added to some soils before seeding legumes. Copper is a component of some enzymes and of vitamin A. Symptoms of copper deficiency include browning of leaf tips and chlorosis. Iron is essential for chlorophyll synthesis, which is why an iron deficiency results in chlorosis . Manganese activates some important enzymes involved in chlorophyll formation. Manganese deficient plants will develop chlorosis between the veins of its leaves ... participates in chlorophyll formation, and also activates many enzymes. Symptoms of zinc deficiency ...   more details



  1. Aldolase A deficiency

    Infobox Disease Name Aldolase A deficiency Image Caption DiseasesDB 29873 ICD10 ICD10 E 74 1 e 70 ICD9 ICDO OMIM 611881 MedlinePlus eMedicineSubj eMedicineTopic MeshID Aldolase A deficiency , also called ALDOA deficiency and red cell aldolase deficiency , ref OMIM 611881 ref is an autosomal recessive ref cite journal pmid 2825199 year 1987 month December author Kishi H, Mukai T, Hirono A, Fujii H, Miwa S, Hori K title Human aldolase A deficiency associated with a hemolytic anemia thermolabile aldolase due to a single base mutation volume 84 issue 23 pages 8623 8627 issn 0027 8424 pmc 299598 journal Proceedings of the National Academy of Sciences of the United States of America format Free full text doi 10.1073 pnas.84.23.8623 ref metabolic disorder resulting in a deficiency of the enzyme aldolase A , which is found predominantly in muscle and red blood cell s. It may lead to myopathy , exercise intolerance and rhabdomyolysis associated with hemolytic anaemia . Image autorecessive.svg thumb right Aldolase A deficiency has an autosomal recessive pattern of inheritance . References reflist Inborn errors of carbohydrate metabolism Category Inborn errors of metabolism Category Autosomal recessive disorders Category Hematology Category Rare diseases endocrine disease stub ...   more details



  1. Deficiency payments

    In the United States, deficiency payments are direct government payments made to farmers who participated in annual commodity programs for wheat, feed grains, rice, or cotton, prior to 1996. The crop specific deficiency payment rate was based on the difference between the legislatively set target price and the lower national average market price during a specified time. The total payment was equal to the payment rate, multiplied by a farm s eligible payment acreage and the program payment yield established for the particular farm. In the latter years of the program, farmers could receive up to one half of their projected deficiency payments at program signup. If actual deficiency payments, which were determined after the crop year, were less than advance deficiency payments, the farmer was required to reimburse the government for the difference, except for zero, 50 85 92 payments. The 1996 farm bill P.L. 107 171 eliminated deficiency payments and replaced them with production flexibility contract payments . The 2002 farm bill P.L. 101 171, Sec. 1104 reinstituted deficiency payments as counter cyclical payments with somewhat different payment calculations. References CRS article Report for Congress Agriculture A Glossary of Terms, Programs, and Laws, 2005 Edition url http ncseonline.org nle crsreports 05jun 97 905.pdf author Jasper Womach Category United States Department of Agriculture ...   more details



  1. Enolase deficiency

    Infobox Disease Name Enolase deficiency Image Caption DiseasesDB ICD10 ICD9 ICDO OMIM 172430 MedlinePlus eMedicineSubj eMedicineTopic MeshID Enolase Deficiency is a rare genetic disorder of glucose metabolism . Partial deficiencies have been observed in several Caucasian race caucasian families. The deficiency is transmitted through an autosomal dominant inheritance pattern. ref Lachant, N. A. Jennings, M. A. Tanaka, K. R. Partial erythrocyte enolase deficiency a hereditary disorder with variable clinical expression. Blood 68 55a only, 1986. ref ref Lachant, N. A. Tanaka, K. R. Enolase kinetic properties in partial erythrocyte enolase deficiency. Abstract Clin. Res. 35 426A only, 1987. ref The gene for Enolase 1 has been localized to Chromosome 1 in humans . ref http www.ncbi.nlm.nih.gov pubmed 884968 Assignment of enolase 1 to region pter of chromosome 1 ref Enolase deficiency, like other glycolytic enzyme deficiences, usually manifests in red blood cells as they rely entirely on anaerobic glycolysis . Enolase deficiency is associated with a spherocytic phenotype and can result in hemolytic anemia , which is responsible for the clinical signs of Enolase deficiency. ref http www.ncbi.nlm.nih.gov pubmed 4640298 Chronic hemolytic anemia associated with erythrocyte enolase deficiency exacerbated by ingestion of nitrofurantoin. ref References reflist Carbohydrate metabolic pathology Category Diseases and disorders Category Inborn errors of metabolism endocrine disease stub ...   more details



  1. Pyridoxine deficiency

    Pyridoxine deficiency also known as B sub 6 sub deficiency is a paediatric disease due to a lack of pyridoxine or vitamin B sub 6 sub . The disease presents with several key symptoms including seizures , irritability , cheilitis inflammation of the lips , conjunctivitis and neurologic symptoms. It usually becomes noticeable within the first 12 months of life in infants with a lack of pyridoxine, a coenzyme responsible for numerous essential metabolism metabolic reactions in humans. It is rarely observed, even in developing countries. ref name TCN cite book title Textbook of Child Neurology last Menkes first John H year 1980 publisher Henry Kimpton Publishers isbn 0 8121 0661 X ref ref name andrews Andrews Diseases of the Skin, 10th Edition, Elsevier. ref In patients receiving isoniazid, pyridoxine deficiency can lead to a sideroblastic anemia because pyridoxine is a required cofactor in heme synthesis. Rare forms main pyridoxine dependent epilepsy Familial pyridoxine dependent epilepsy causes seizures at birth or shortly afterwards. It has been speculated that the cause of seizures in pyridoxine deficiency lies with abnormalities in the normal ratio of glutamic acid to GABA. ref name TCN Association is noted with ALDH7A1 gene. Irritability and other neurologic symptoms, such as confusion ... TCN Causes The main cause of pyridoxine deficiency is a lack of pyridoxine in the diet. Another cause of vitamin B sub 6 sub deficiency is the use of the tuberculosis tuberculostatic medication isoniazid ... when suffering from pyridoxine deficiency. ref name TCN Neurologic symptoms are most likely ... tissue concentrations of the enzyme. ref name TCN Diagnosis Pyridoxine deficiency is a very rare ... lacking in pyridoxine. ref name TCN A positive diagnosis test for pyridoxine deficiency can be ascertained ... serum . ref name andrews Treatment Treatment of pyridoxine deficiency lies with replacing the missing ... to provoke deficiency symptoms. ref name TCN References reflist 2 Nutritional pathology Category ...   more details



  1. Myeloperoxidase deficiency

    Infobox disease Name Myeloperoxidase deficiency Image Hypochlorous acid 3D vdW.png Caption Hypochlorous acid is normally produced by myeloperoxidase DiseasesDB 8662 ICD10 ICD9 ICDO OMIM 254600 MedlinePlus eMedicineSubj ped eMedicineTopic 1530 MeshID Myeloperoxidase deficiency is a common genetic disorder featuring deficiency, either in quantity or function, of myeloperoxidase , an enzyme found in certain phagocyte phagocytic immune cells, especially polymorphonuclear leukocyte s. It can appear similar to chronic granulomatous disease on some screening tests. ref name pmid17384005 cite journal author Mauch L, Lun A, O Gorman MR, et al. title Chronic granulomatous disease CGD and complete myeloperoxidase deficiency both yield strongly reduced dihydrorhodamine 123 test signals but can be easily discerned in routine testing for CGD journal Clin. Chem. volume 53 issue 5 pages 890 6 year 2007 month May pmid 17384005 doi 10.1373 clinchem.2006.083444 url http www.clinchem.org cgi pmidlookup?view long&pmid 17384005 ref Presentation Although MPO deficiency classically presents with immune deficiency especially candida albicans infections , the majority of individuals with MPO deficiency show no signs of immunodeficiency. The lack of severe symptoms suggest that role of myeloperoxidase in the immune response must be redundant to other mechanisms of intracellular killing of phagocytosed bacteria. ref Levinson, Warren. Medical Microbiology & Immunology, 8th ed. Lange 2004. ref Patients with MPO deficiency have a respiratory burst with a normal NBT dye test because they still have NADPH oxidase activity, but do not form bleach due to their lack of myeloperoxidase activity. This is in contrast to chronic granulomatous disease in which the NBT test is negative due to the lack of NADPH oxidase activity. References reflist Myeloid and complement immunodeficiency Category Inborn errors of metabolism Category Immune system disorders Category Noninfectious immunodeficiency related cutaneous ...   more details



  1. MAT deficiency

    MAT deficiency is a name used to describe two unrelated metabolic disorders Beta ketothiolase deficiency Hypermethioninemia disambig Short pages monitor This long comment was added to the page to prevent it being listed on Special Shortpages. It and the accompanying monitoring template were generated via Template Longcomment. Please do not remove the monitor template without removing the comment as well. ...   more details



  1. Molybdenum deficiency

    Infobox Disease Name PAGENAME Image Mo TableImage.png Caption Molybdenum DiseasesDB ICD10 ICD10 E 61 5 e 50 ICD9 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID 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 doesn t occur in natural settings. ref name urlLinus Pauling Institute at Oregon State University cite web url http lpi.oregonstate.edu infocenter minerals molybdenum title Linus Pauling Institute at Oregon State University format work accessdate 2008 11 29 ref However, it can occur in individuals receiving parenteral nutrition . ref name pmid8302261 cite journal author Sardesai VM title Molybdenum an essential trace element journal Nutr Clin Pract volume 8 issue 6 pages 277 81 year 1993 month December pmid 8302261 doi 10.1177 0115426593008006277 url ref ref name urlMolybdenum Mineral Deficiency and Toxicity Merck Manual Professional cite web url http www.merck.com mmpe sec01 ch005 ch005h.html title Molybdenum Mineral Deficiency and Toxicity Merck Manual Professional format work accessdate 2008 11 29 ref See also molybdenum cofactor deficiency References reflist medicine stub Nutritional pathology Category Nutritional deficiencies ...   more details



  1. Phosphorus deficiency

    Unreferenced date August 2009 Phosphorus P deficiency is a plant disorder that is most common in areas of high rainfall, especially on Soil pH acid , clay or poor chalk soil s. Cold weather can cause a temporary deficiency. All plants may be affected, although this is an uncommon disorder. Particularly susceptible are carrot s, lettuce , spinach , Apple fruit apple s, Ribes currant s and Gooseberry gooseberries . Symptoms include poor growth, and leaves that turn blue green but not yellow&mdash oldest leaves are affected first. Fruit s are small and acid tasting. Phosphorus deficiency may be confused with nitrogen deficiency . Undersides of tomato plant leaves, and the veins and stems, may turn purple. stiff, stunted plants with purlish tinge. It can be controlled by applying Organic gardening organic sources of phosphorus such as rock phosphate or a high phosphorus fish fertilizer applied as a soil drench or foliar feed. Citation needed date August 2009 Plants that are naturally adapted to low levels of available soil phosphorus, however, are more likely to suffer from phosphate poisoning the key is to provide the right level for any particular plant type, neither too high nor too low. Or date August 2009 PlantMineralDeficiency DEFAULTSORT Phosphorus Deficiency Category Physiological plant disorders plant disease stub ar ...   more details



  1. Transaldolase deficiency

    Orphan date February 2009 Infobox Disease Name Transaldolase deficiency Image Caption DiseasesDB ICD10 ICD9 ICDO OMIM 606003 MedlinePlus eMedicineSubj eMedicineTopic MeshID Transaldolase deficiency is a disease characterised by abnormally low levels of the Transaldolase enzyme. It is a metabolic enzyme involved in the pentose phosphate pathway . It is caused by mutation in the transaldolase gene TALDO1 . It was first described by Verhoeven et al. in 2001. ref cite journal author Verhoeven NM, Huck JH, Roos B, et al. title Transaldolase deficiency liver cirrhosis associated with a new inborn error in the pentose phosphate pathway journal Am. J. Hum. Genet. volume 68 issue 5 pages 1086 92 year 2001 month May pmid 11283793 pmc 1226089 doi 10.1086 320108 url ref References reflist Inborn errors of carbohydrate metabolism Category Hematology endocrine disease stub ...   more details



  1. Biotinidase deficiency

    Infobox disease Name Biotinidase deficiency Image Biotin structure.svg Caption Biotin DiseasesDB 29822 ... Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released ... results in biotin deficiency. Biotin, sometimes called vitamin B sub 7 sub , is an important water soluble nutrient that aids in the metabolism of fat s, carbohydrate s and protein s. Biotin deficiency ... on the results of worldwide screening of biotinidase deficiency in 1991, the incidence of the disorder is One in 137,401 for profound biotinidase deficiency One in 109,921 for partial biotinidase deficiency One in 61,067 for the combined incidence of profound and partial biotinidase deficiency Carrier ... deficiency can appear several days after birth. These include seizure s, hypotonia and muscle .... Biotinidase deficiency can also appear later in life. This is referred to as late onset biotinidase deficiency. The symptoms are similar, but perhaps more mild, because if an individual survives ... Profound biotinidase deficiency in two asymptomatic adults journal American Journal of Medical Genetics ... first9 Barry last9 Wolf title Partial biotinidase deficiency Clinical and biochemical features journal ... outcome of 21 patients with profound biotinidase deficiency detected by newborn screening ... correlated with the severity of the enzyme defect. Profound biotinidase deficiency refers to situations ... deficiency may have enzyme activity of 10 30 . ref name pmid2295967 Dietary Concerns It is recommended that raw eggs should be avoided in those affected by biotin deficiency, because egg whites ... deficiency has an autosomal recessive pattern of inheritance. Mutation s in the BTD gene cause biotinidase deficiency. Biotinidase is the enzyme that is made by the BTD gene. Many mutations that cause ... Biotinidase Deficiency chapterurl http www.ncbi.nlm.nih.gov books NBK1322 editor1 first Roberta A editor1 ... parents are carriers for the biotinidase deficiency, there is a 25 chance that their child will be born ...   more details



  1. Deficiency judgment

    A deficiency judgment is an unsecured money judgment against a borrower whose Mortgage law mortgage foreclosure sale did not produce sufficient funds to pay the underlying promissory note , or loan, in full. ref See also Ballentine s Law Dictionary, p. 133. ref The availability of a deficiency judgment depends on whether the lender has a recourse or nonrecourse loan , which is largely a matter of state law. In some jurisdictions, first mortgages are non recourse loans, but second and subsequent ones are recourse loans. States that follow the title theory of mortgages typically allow non judicial foreclosure procedures, which are fast, but do not allow deficiency judgments. States that follow the lien theory of mortgages require judiciary foreclosure procedures, but allow deficiency judgments against the debtor. References references See also Bankruptcy Foreclosure Mortgage law Real estate Category Judgment law Category Bankruptcy Category Judicial remedies Category Property law US law stub ja ...   more details



  1. MBL deficiency

    Infobox disease Name MBL deficiency Image Alt Caption DiseasesDB ICD10 ICD9 ICDO OMIM 154545 MedlinePlus eMedicineSubj eMedicineTopic MeshID GeneReviewsID GeneReviewsName MBL deficiency refers to Mannan binding lectin pathway components such as MBL2 . It is believed to have a prevalence of 20 30 . ref name pmid19827955 cite journal author Lambourne J, Agranoff D, Herbrecht R, et al. title Association of mannose binding lectin deficiency with acute invasive aspergillosis in immunocompromised patients journal Clin. Infect. Dis. volume 49 issue 10 pages 1486 91 year 2009 month November pmid 19827955 doi 10.1086 644619 url ref These polymorphisms may increase vulnerability to infectious disease. ref name pmid20375630 cite journal author Eisen DP title Mannose binding lectin deficiency and respiratory tract infection journal J Innate Immun volume 2 issue 2 pages 114 22 year 2010 month February pmid 20375630 doi 10.1159 000228159 url ref References reflist Lymphoid and complement immunodeficiency medicine stub Category Immunodeficiency ...   more details



  1. ZAP70 deficiency

    Infobox Disease Name ZAP70 deficiency Image Caption DiseasesDB 34801 ICD10 ICD9 ICDO OMIM 176947 MedlinePlus eMedicineSubj eMedicineTopic MeshID ZAP70 deficiency , or zeta chain associated protein 70 kD deficiency , ref name omim OMIM 176947 ref is a rare autosome autosomal dominance genetics recessive form of severe combined immunodeficiency SCID . ref name pmid12149205 cite journal author Otsu M, Steinberg M, Ferrand C, et al. title Reconstitution of lymphoid development and function in ZAP 70 deficient mice following gene transfer into bone marrow cells journal Blood volume 100 issue 4 pages 1248 56 year 2002 pmid 12149205 doi 10.1182 blood 2002 01 0247 url http www.bloodjournal.org cgi pmidlookup?view long&pmid 12149205 ref It is associated with ZAP70 . Presentation It is characterized by a lack of CD8 T cell s and the presence of circulating CD4 T cells which are unresponsive to T cell receptor TCR mediated stimuli. ref MerckManual 13 164 q ZAP 70 Deficiency ref Treatment Image autorecessive.svg thumb right ZAP70 deficiency has an autosomal recessive pattern of inheritance. No cure currently exists however, gene therapy has been proposed. ref name pmid16075064 cite journal author Adjali O, Marodon G, Steinberg M, et al. title In vivo correction of ZAP 70 immunodeficiency by intrathymic gene transfer journal J. Clin. Invest. volume 115 issue 8 pages 2287 95 year 2005 pmid 16075064 doi 10.1172 JCI23966 pmc 1180533 ref ref name pmid18446234 cite journal author Irla M, Saade M, Kissenpfennig A, et al. editor1 last Gold editor1 first Jeffrey A. title ZAP 70 restoration in mice by in vivo thymic electroporation journal PLoS ONE volume 3 issue 4 pages e2059 year 2008 pmid 18446234 pmc 2323614 doi 10.1371 journal.pone.0002059 url http www.plosone.org article info doi 10.1371 ... registry for autosomal recessive ZAP70 deficiency OMIM 176947 RareDiseases 387 ZAP70 deficiency Selective T cell defect Zeta associated protein 70 deficiency Immune disorders Deficiencies of intracellular ...   more details



  1. Nitrogen deficiency

    Image Spitskool stikstofgebrek nitrogen deficiency Brassica oleracea convar. capitata var. alba.jpg right thumb 275px A young cabbage plant exhibiting nitrogen deficiency. This is about nitrogen compounds in plant nutrition. For shortage of nitrogen compounds in human and animal nutrition, see protein deficiency . All plants require sufficient supplies of macronutrients for healthy growth, and nitrogen N is a nutrient that is commonly in limited supply. Nitrogen deficiency in plant s can occur when organic matter with high carbon carbon content, such as sawdust , is added to soil . ref name compost http whatcom.wsu.edu ag compost fundamentals needs carbon nitrogen.htm ref Soil organisms use any nitrogen to break down carbon sources, making N unavailable to plants. ref name compost This is known as robbing the soil of nitrogen. All vegetables apart from Nitrogen fixation nitrogen fixing legume s are prone to this disorder. Nitrogen deficiency can be prevented in the short term by using grass mowings as a mulch , or foliar feed ing with manure , and in the longer term by building up levels of organic matter in the soil. Sowing green manure crops such as rye grazing rye to cover soil over the winter will help to prevent nitrogen leaching, while leguminous green manures such as winter tares will fix additional nitrogen from the atmosphere. Detecting Nitrogen Deficiency The visual symptoms of nitrogen deficiency mean that it can be relatively easy to detect in some plant species. Symptoms include poor plant growth, and leaves that are pale green or yellow because they are unable to make sufficient chlorophyll. Leaves in this state are said to be chlorosis chlorotic . Lower leaves ..., nitrogen deficiency is most reliably detected by conducting quantitative tests in addition to assessing ... sample the plant of interest. However, nitrogen deficiency can also be detected Plant tissue test ... test for nitrogen deficiency. See also Nitrogen fixation References Reflist PlantMineralDeficiency ...   more details



  1. Copper deficiency

    Infobox Disease Name Copper deficiency Image Caption DiseasesDB ICD10 ICD10 E 61 0 e 50 ICD9 ICD9 275.1 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID Copper deficiency is a very rare hematological ... syndrome of copper deficiency has been recognized for some time in ruminant animals ... a nutritional deficiency in the trace element copper. ref name Jaiser, copper myelopathy Copper is ubiquitous and daily requirement is low making acquired copper deficiency very rare. Copper deficiency can manifest in parallel with vitamin B12 deficiency and zinc toxicity. ref name Half The most common cause of copper deficiency is a remote gastrointestinal surgery, such as gastric bypass surgery, due to malabsorption of copper. Menkes disease is a variation of copper deficiency involving a wide ..., nuts, poultry, prunes, and soybeans products like tofu. ref name Source The deficiency in copper ... called the first line of defense for the immune system . ref name Half Copper deficiency has long ... leukemia development , but it was until recently in 2001 that copper deficiency was associated with neurological ... hallmark, enabling physicians to investigate copper deficiency as a diagnosis. ref name Kumar ... and normocytic a deficiency in normal sized red blood cells manifest. ref name Klevay ref name ... prolonged copper deficiency has to persist to manifest thrombocytopenia . ref name Kumar Many times ... deficiency as the cause of degeneration, vitamin B12 deficiency is the cause. ref name Half ref name ... of copper deficiency at the state is crucial to prevent unnecessary painful surgery, such as the bone marrow biopsy . Neurological Presentation Copper deficiency can cause a wide variety of neurological ... with myelopathy caused by copper deficiency. ref name Jaiser, copper myelopathy ref name .... ref name Jaiser, copper myelopathy ref name Kumar Copper deficiency myelopathy is often compared to subacute ... a degeneration of the spinal chord, but instead vitamin B12 deficiency is the cause of the spinal ...   more details



  1. Pseudocholinesterase deficiency

    Infobox Disease Name Pseudocholinesterase deficiency Image Caption DiseasesDB 10829 ICD10 ICD9 ICD9 289.89 ICDO OMIM 177400 MedlinePlus eMedicineSubj med eMedicineTopic 1935 MeshID Pseudocholinesterase deficiency is an inherited blood plasma enzyme abnormality. People who have this abnormality may be sensitive to certain anesthesia anesthetic drugs, including the muscle relaxants succinylcholine and mivacurium as well as other ester local anesthetics. ref Maiorana, Anthony & Roach, Robert B. 2003 . Heterozygous pseudocholinesterase deficiency a case report and review of the literature . Journal of Oral and Maxillofacial Surgery. 61 7 , 845 847. http www.joms.org JOMS . Retrieved Mar. 13, 2007. ref An exhaustive list of drugs that are normally metabolism metabolized by the pseudocholinesterase enzyme can be found in the following section. Impacted Groups Arya Vysyas Multiple studies done both in and outside India have shown an increased prevalence of pseudocholinesterase deficiency in the Hindu Arya Vysya community. A study performed in Coimbatore , India, on 22 men and women from this community showed that 9 of them had pseudocholinesterase deficiency, which translates to a prevalence ... deficiency, the patient experiences prolonged paralysis of the respiratory muscles, requiring ... . Eventually the muscle paralyzing effects of these drugs will wear off despite the deficiency ... condition unless a person with pseudocholinesterase deficiency is exposed to the offending pharmacology ... Pseudocholinesterase deficiency . Retrieved Mar. 13, 2007. ref Drugs to avoid Drugs containing ... to surgery. That means that victims of this deficiency cannot receive certain anesthetics. A dose that would ... as a model for human butyrylcholinesterase deficiency . Journal of Pharmacology And Experimental .... 2006 . Pseudocholinesterase Deficiency . http www.emedicine.com med topic1935.htm eMedicine ... References reflist Hematologic disease DEFAULTSORT Pseudocholinesterase Deficiency Category Enzymes ...   more details




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