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Prolidase deficiency





Encyclopedia results for Prolidase deficiency

  1. Prolidase deficiency

    Infobox Disease Name Prolidase deficiency Image Caption DiseasesDB 29838 ICD10 ICD9 ICDO OMIM 170100 MedlinePlus eMedicineSubj eMedicineTopic MeshID Prolidase deficiency is a rare autosome autosomal dominance genetics recessive ref name pdar cite journal pmid 7187192 year 1982 month author Larr que M, Charpentier C, Laidet B, Lambert M, Bressieux JM, Prigent F, Canuel C, Tanzer J title Prolidase and manganese deficiency. Apropos of a case diagnosis and treatment volume 109 issue 8 pages 667&ndash 678 issn 0151 9638 journal Annales de dermatologie et de v n r ologie url http www.nlm.nih.gov medlineplus leginjuriesanddisorders.html format Free full text ref inborn error of metabolism . ref name pdone cite journal author Kavala M, Zindanci I, Sudogan S, Turkoglu Z, Sarigul S title Ulcus cruris associated with prolidase deficiency journal Dermatol Online J. volume 12 issue 7 pages 24 year 2006 pmid 17459310 ref ref name Andrews cite book author James, William D. Berger, Timothy G. et al. title Andrews Diseases of the Skin clinical Dermatology publisher Saunders Elsevier location year 2006 page 541 isbn 0 7216 2921 0 accessdate May 2009 ref Although metabolism of the amino acid proline is affected by the enzyme prolidase , this disorder is not to be confused with hyperprolinemia , which ... Characteristics Prolidase deficiency is characterized by severe skin ulcers, facial abnormalities ... Image Autorecessive.jpg thumb right Prolidase deficiency has an autosomal recessive pattern of inheritance ... prolidase deficiency. ref cite journal pmid 15309682 year 2004 month author Lupi, A De, Riso ... allele causing prolidase deficiency in two unrelated patients natural occurrent mutations as a tool ... links http www.orpha.net data patho GB uk prolidase.pdf Prolidase deficiency on OrphaNet Amino acid ... books.mcgraw hill.com medical ommbid blog OMMBID blog . ref . Due to this deficiency of the exopeptidase called prolidase , affected individuals may also excrete large amounts of iminodipeptides in the urine ...   more details



  1. Deficiency

    Wiktionary A deficiency is generally a lack of something. It may also refer to A deficient number , in mathematics, a number n for which n     2 n Angular deficiency , in geometry, the difference between a sum of angles and the corresponding sum in a Euclidean plane Deficiency medicine , including various types of malnutrition, as well as genetic diseases caused by deficiencies of endogenously produced proteins. A deficiency in construction , an item, or condition that is considered sub standard, or below minimum expectations Genetic deletion , in genetics, is also called a deficiency A deficiency judgment , in the law of real estate A tax deficiency , an amount owed in taxes over and above what has been submitted in payment disambig ar de Mangel es Deficiencia nl Defici ntie no Mangel ...   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. Nutrient deficiency

    Nutrient deficiency may refer to Malnutrition in regard to animals Micronutrient deficiency in regard to plants dab ...   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. 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 Mineral deficiencies medicine stub ...   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. Deficiency (medicine)

    In medicine , a deficiency is a lack or shortage of a functional entity, by less than normal or necessary supply or function. ref http medical dictionary.thefreedictionary.com deficiency TheFreeDictionary deficiency . Citing Dorland s Medical Dictionary for Health Consumers. 2007 Miller Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. 2003 ref Nutrients Main Malnutrition Malnutrition can cause various effects by deficiency of one or more nutrients. For example, vitamin A deficiency causes symptoms such as xerophthalmia dry eyes and night blindness. Endogenously produced proteins Deficiencies of endogenously produced proteins such as enzyme s are the underlying mechanisms of almost all genetic disorder s, for example the inborn errors of metabolism . References reflist medicine stub Category Medical terms ...   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. 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, the original loan s obtained to purchase property is are non recourse, but subsequent refinancing of a first mortgage and or acquisition of a 2nd 3rd., etc. are recourse loans. In short, many jurisdictions hold that the loans obtained at the acquisition of a property purchase money are non recourse, and most if not all subsequent loans are. States that follow the title trust deed 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. It is important to note that there is a difference between a deficiency and a deficiency judgement. A deficiency is the difference between the amount owed on a loan and the total amount received collected at the closing of a loan. A deficiency judgment is a court judgment that is a public record of the amount owed and by whom. 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. 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. It also represents a human physiological disorder which occurs when a person s diet does not contain required nutrients and or when illnesses such as diarrhoea or malaria cause rapid loss of nutrients through feces or vomit. ref http jn.nutrition.org content 132 7 2117S.full The Development of Concepts of Malnutrition , Journal of Nutrition, 132 2117S 2122S, July 1, 2002. ref Untreated, sub clinical deficiencies can manifest as serious physical disabilities or life threatening disorders, such as Beriberi thiamine deficiency , scurvy vitamin C or xerophthalmia vitamin A . ref http www.fao.org righttofood KC downloads vl docs AH529.pdf Entitlement Failure from a Food Quality Perspective The Life and Death Role of Vitamins and Minerals in Humanitarian Crises. Patrick Webb and Andrew Thorne Lyman, World Institute for Development Economics ..., UCLA. Topic 5.1 Symptoms of Deficiency In Essential Minerals. Sinauer Publishing. ref Nutrient ... 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 ... regulation. Boron deficiency will often result in bud dieback. Calcium Chlorine is necessary ... 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 .... Symptoms of zinc deficiency include chlorosis and stunted growth. See also Plant nutrition References ...   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 carbohydrate metabolism Category Autosomal recessive disorders Category Red blood cell disorders 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. 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 Nitro blue tetrazolium chloride nitro blue tetrazolium NBT 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 positive due to the lack of NADPH oxidase activity positive test result means neutrophils fail to turn blue . References reflist Myeloid and complement immunodeficiency Category Enzyme ...   more details



  1. Pyridoxine deficiency

    Infobox disease Name Vitamin B sub 6 sub deficiency Image Pyridoxine structure ver2.svg Caption Pyridoxine DiseasesDB 13923 ICD10 ICD10 E 53 1 e 50 ICD9 ICD9 266.1 ICDO OMIM MedlinePlus eMedicineSubj med eMedicineTopic 1977 MeshID D026681 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 . 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 Symptoms The disease presents with several key symptoms including seizures , irritability , cheilitis inflammation of the lips , conjunctivitis and neurologic symptoms. 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 ... been speculated that the cause of seizures in pyridoxine deficiency lies with abnormalities in the normal ... also been documented as a symptom. ref name 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 ... to alpha ketoglutaric acid are both impaired in animals when suffering from pyridoxine deficiency. ref ... Diagnosis Pyridoxine deficiency is a very rare condition, even in developing countries. A handful of cases ... test for pyridoxine deficiency can be ascertained by measuring erythrocyte levels of aspartate ... deficiency lies with replacing the missing vitamin. Penicillamine or hydrazide s, such as isoniazid , are rarely used due to their ability to provoke deficiency symptoms. ref name TCN References ...   more details



  1. IgG deficiency

    Infobox Disease Name IgG deficiency Image IgG molecular surface.jpg Caption Immunoglobulin G DiseasesDB ICD10 ICD10 D 80 3 d 80 ICD9 ICD9 279.03 ICDO OMIM MedlinePlus eMedicineSubj med eMedicineTopic 1161 MeshID D017099 IgG deficiency Selective deficiency of immunoglobulin G is a form of dysgammaglobulinemia where the proportional levels of IgG are reduced relative to other immunoglobulin . It is possible to have a deficiency of one or more specific subclass es of IgG. ref name pmid12803653 cite journal author Barton JC, Bertoli LF, Acton RT title HLA A and B alleles and haplotypes in 240 index patients with common variable immunodeficiency and selective IgG subclass deficiency in central Alabama journal BMC Med. Genet. volume 4 pages 3 year 2003 month June pmid 12803653 pmc 166147 doi 10.1186 1471 2350 4 3 url http www.biomedcentral.com 1471 2350 4 3 ref ref name pmid12049826 cite journal author Dhooge IJ, van Kempen MJ, Sanders LA, Rijkers GT title Deficient IgA and IgG2 anti pneumococcal antibody levels and response to vaccination in otitis prone children journal Int. J. Pediatr. Otorhinolaryngol. volume 64 issue 2 pages 133 41 year 2002 month June pmid 12049826 doi 10.1016 S0165 5876 02 00068 X url http linkinghub.elsevier.com retrieve pii S016558760200068X ref References reflist Immune disorders Category Predominantly antibody de ciencies medicine stub ...   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 Mineral deficiencies ...   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 Complement deficiency ...   more details



  1. Phosphorus deficiency

    Refimprove date August 2009 Phosphorus P deficiency Next to calcium, phosphorus is one of the most important minerals you need to take to make sure that your bones are as healthy as they can be. Unfortunately, while you have probably heard about the importance of calcium, there s a good chance you re not quite as familiar with phosphorus. Outside of protecting your bones, there are a variety of things that phosphorus can do to help your body stay healthy. 4 common signs that can tell you that you might not get enough phosphorus are weak bones or teeth, joint pain and stiffness, less energy and lack of appetite. ref name hamedk http www.fitday.com fitness articles nutrition vitamins minerals 4 signs of phosphorus deficiency.html Fit Day , 4 Signs of Phosphorus Deficiency. ref references Phosphorus deficiency could also be 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, 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 ... DEFAULTSORT Phosphorus Deficiency Category Physiological plant disorders plant disease ...   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 Functionally, there is no significant difference between dietary biotin deficiency and genetic loss of biotin related enzyme ... catabolism of leucine and isoleucine . The symptoms of biotinidase deficiency and dietary deficiency ... the effects of biotin deficiency, including aggression, cognitive delay, and reduced immune function ... deficiency, because egg whites contain high levels of avidin . The name avidin literally means that the protein ... autorecessive.svg thumb right Biotinidase deficiency has an autosomal recessive pattern of inheritance ...   more details



  1. Electron deficiency

    Unreferenced stub auto yes date December 2009 Electron deficiency occurs when a compound has too few valence electron s for the connections between atoms to be described as covalent bond s. Electron deficient bonds are often better described as 3 center 2 electron bond s. Examples of compounds that are electron deficient are the borane s. The term electron deficient is also used in a more general way in organic chemistry , to indicate a pi bonding pi system such as an alkene or arene that has Polar effect electron withdrawing groups attached, as found in nitrobenzene or acrylonitrile . Instead of showing the nucleated character common with simple C C bonds, electron deficient pi systems may be electrophile electrophilic and susceptible to nucleophilic attack, as is seen in the Michael addition or in nucleophilic aromatic substitution . As the most extreme form of highly localize electron deficiency one can consider the metallic bond . DEFAULTSORT Electron Deficiency Category Chemical bonding Chem stub ar de Elektronenmangelbindung nl Elektronendefici ntie pt Defici ncia de el trons zh ...   more details



  1. Properdin deficiency

    Infobox disease Name Properdin deficiency Image Caption DiseasesDB ICD10 ICD9 ICDO OMIM 312060 MedlinePlus eMedicineSubj eMedicineTopic MeshID Properdin deficiency is a rare X linked disease in which properdin , an important Complement system complement factor , is deficient. ref name pmid10909851 cite journal author van den Bogaard R, Fijen CA, Schipper MG, de Galan L, Kuijper EJ, Mannens MM title Molecular characterisation of 10 Dutch properdin type I deficient families mutation analysis and X inactivation studies journal Eur. J. Hum. Genet. volume 8 issue 7 pages 513 8 year 2000 month July pmid 10909851 doi 10.1038 sj.ejhg.5200496 url ref Affected individuals are susceptible to fulminant Meningococcemia meningococcal disease . References reflist Disease stub Lymphoid and complement immunodeficiency X linked disorders Category Complement deficiency Category Rare diseases ...   more details



  1. Transaldolase deficiency

    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 Inborn errors of carbohydrate metabolism endocrine disease stub ...   more details



  1. Iron deficiency

    for the plant disorder also known as lime induced chlorosis Iron deficiency plant disorder Refimprove date June 2011 Infobox disease Name Iron deficiency Image Heme b.svg Caption Iron in heme DiseasesDB ... 1188 MeshID Iron deficiency sideropenia or hypoferremia is one of the most common of the nutritional ... functions and lead to morbidity and death . The direct consequence of iron deficiency is iron deficiency anemia . Children and pre menopausal women are the groups most prone to the disease ... iron metabolism and safeguard against iron deficiency. The main regulatory mechanism is situated in the gastrointestinal ... from the diet, a state of iron deficiency develops over time. When this state is uncorrected, it leads to iron deficiency anemia. Causes chronic bleeding hemoglobin contains iron excessive menstrual ... donation Though genetic defects causing iron deficiency have been studied in rodents, there are no known genetic disorders of human iron metabolism that directly cause iron deficiency. Symptoms Symptoms of iron deficiency can occur even before the condition has progressed to iron deficiency anaemia . Symptoms of iron deficiency are not unique to iron deficiency i.e. not pathognomonic . Iron is needed ... as the secondary result of the anemia, or as other primary results of iron deficiency. Symptoms of iron deficiency include Fatigue physical fatigue pallor hair loss irritability Muscle weakness weakness ... patients having iron deficiency anemia in a tertiary care hospital last1 Rangarajan first1 Sunad last2 ... j.sleep.2006.10.004 ref Likely lab test results in people with iron deficiency A complete blood count ..., if iron deficiency is the result of gastrointestinal bleeding . As always, laboratory values ... serum ferritin may not always exclude iron deficiency. Consequences Continued iron deficiency ... cause for iron deficiency. This is particularly the case in older patients, who are most susceptible ... with iron deficiency anemia may have underlying gastrointestinal disorders leading to chronic blood ...   more details




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