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
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
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
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 cite journal author Lachant NA, Jennings MA, Tanaka KR title Partial erythrocyte enolase deficiency a hereditary disorder with variable clinical expression journal Blood volume 68 pages 55a year 1986 ref ref cite journal author Lachant NA, Tanaka KR title Enolase kinetic properties in partial erythrocyte enolase deficiency journal Clin. Res. format Abstract volume 35 pages 426A only year 1987 Verify source can t find this article http scholar.google.com scholar?hl en&q author 3ALachant author 3ATanaka&btnG Search&as ... and Genome Research volume 18 issue 6 pmid 884968 ref Enolase deficiency, like other glycolytic ... . 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 cite journal pmid 4640298 ... deficiency exacerbated by ingestion of nitrofurantoin volume 58 issue 4 pages 408 14 journal American journal of clinical pathology ref Causes Genetics is found to be the cause of enolase deficiency. The individual in the first known case of this deficiency was heterozygous for the gene for enolase ... enolase deficiency, a new metabolic myopathy of distal glycolysis. Annals Of Neurology, 50 2 , 202 207. ref Symptoms Symptoms of enolase deficiency include exercise induced myalgia and generalized muscle ... gene, the gene encoding enolase, to be responsible for the deficiency, both mutations changed ... result in incorrect folding and increased susceptibility to protein degradation thus causing the deficiency ... muscle enolase deficiency journal FEBS Journal year 2007 pages 97 106 doi 10.1111 j.1742 4658.2007.06177.x ... more details
Infobox disease Name Vitamin A deficiency Image All trans Retinol2.svg Caption Retinol DiseasesDB 13902 ... Vitamin A deficiency is a lack of vitamin A in humans. It is common in developing countries but rarely seen in developed countries. Night blindness is one of the first signs of vitamin A deficiency ... children in the developing world go blind each year from a deficiency of vitamin A, approximately ... set the elimination of vitamin A deficiency by 2010. The prevalence of night blindness due to vitamin A deficiency is also high among pregnant women in many developing countries. Vitamin A deficiency ... name WHO Vitamin A deficiency Micronutrient deficiencies cite web url http www.who.int nutrition topics vad en title WHO Vitamin A deficiency Micronutrient deficiencies accessdate 2008 03 03 format work ... Sommer, Alfred title Vitamin a Deficiency and Its Consequences A Field Guide to Detection and Control ... S27 2E.pdf title A world fit for children accessdate 2008 03 03 format work ref Vitamin A deficiency ... Sommer ophthalmologist Dr. Alfred Sommer , even mild, subclinical deficiency can also be a problem ... A deficiency is estimated to affect approximately one third of children under the age of five around the world. ref World Health Organization, Global prevalence of vitamin A deficiency in populations at risk 1995 2005, WHO global database on vitamin A deficiency. ref It is estimated to claim the lives ... A deficiency, with the highest prevalence in Southeast Asia and Africa. According to the World Health Organization WHO , vitamin A deficiency is under control in the United States, but in developing countries vitamin A deficiency is a significant concern. Signs and symptoms The most common cause of blindness in developing countries is vitamin A deficiency VAD . The World Health Organization WHO ..., C E Gilbert, A Foster. Childhood blindness due to vitamin A deficiency in India regional ... A Deficiency Disorders International Efforts to Control A Preventable Pox. J. Nutr. 134 231S ... more details
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 ... The neurodegenerative 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 ... The most common cause of copper deficiency is a remote gastrointestinal surgery, such as gastric bypass ... disorder of copper deficiency involving a wide variety of symptoms that is often fatal. ref ..., poultry, prunes, and soybeans products like tofu. ref name Source The deficiency in copper can cause ... the first line of defense for the immune system . ref name Half Copper deficiency has long been known ... development , but it was until recently in 2001 that copper deficiency was associated with neurological ... to investigate copper deficiency as a diagnosis. ref name Kumar All types of anemia including microcytic ... insufficient amounts of hemoglobin per unit volume of blood and normocytic a deficiency in normal ..., is observed in patients. ref name Half ref name Kumar Usually prolonged copper deficiency has to persist ... is also a degeneration of the spinal cord, but instead of copper deficiency as the cause of degeneration, vitamin B12 deficiency is the cause. ref name Half ref name Jaiser, copper myelopathy These bone ... to undergo a stem cell transplantation. ref name lls A diagnosis of copper deficiency at the state ... Copper deficiency can cause a wide variety of neurological problems including, myelopathy ... deficiency. ref name Jaiser, copper myelopathy ref name Kumar ref name MRI T2 signalling is often ... name Kumar Copper deficiency myelopathy is often compared to subacute combined degeneration SCD . ref ... vitamin B12 deficiency is the cause of the spinal degeneration. ref name Jaiser, copper myelopathy ... more details
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
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 , also known as Polygamist Down s , ref name digitaljournal 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 hydratase FH gene in humans, which ... OMIM 606812 Fumarase Deficiency ref Fumarase deficiency is one of the few known deficiencies of the Krebs ... 471 67808 2 page 546 ref Image autorecessive.svg thumb right Fumarase deficiency has an autosomal recessive ... pmid2314594 cite journal author Gellera C, Uziel G, Rimoldi M, et al. title Fumarase deficiency is an autosomal ... with progressive encephalopathy and fumarase deficiency journal J. Clin. Invest. volume 93 issue ..., et al. title Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy ... doi 10.1002 ajmg.a.31186 ref Presentation Fumarase deficiency causes encephalopathy , ref name pmid18366737 ... fumarase deficiency journal BMC Med. Genet. volume 9 issue 1 pages 20 year 2008 pmid 18366737 doi ... Deficiency date 1993 pmid 20301679 ref Emergence in a polygamist settlement Fumarase deficiency ... Causes Most Of The World s Fumarase Deficiency Cases , Digital Journal ref Theodore Tarby, a pediatric ... dn view 0,1249,635182923,00.html Birth defect is plaguing children in FLDS towns Fumarase Deficiency ... also turned out to have fumarase deficiency. ref name Dougherty2005 See also Hereditary leiomyomatosis ... Hydratase Deficiency url http www.ncbi.nlm.nih.gov books NBK1506 editor Pagon RA, Bird TD, Dolan ... mitosyn.html fumaratehydratase Mitochondrial Disorders Fumarase Deficiency at Washington University ... Deficiency Category Amino acid metabolism disorders Category Autosomal recessive disorders Category ... more details
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 involves different enzymatyic pathways related to proline metabolism. Citation needed date May 2009 Characteristics Prolidase deficiency is characterized by severe skin ulcers, facial abnormalities ... books.mcgraw hill.com medical ommbid blog OMMBID blog . ref . Due to this deficiency of the exopeptidase ... 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 ... more details
Infobox Disease Name Biotin deficiency Image Biotin structure.svg Caption Biotin DiseasesDB ICD10 ICD10 ... deficiency is a rare nutritional disorder which can become serious, even fatal, if allowed to progress ... family. Biotin deficiency rarely occurs among healthy people because the daily requirement of biotin ... factors are inhibited, biotin deficiency could occur. Clinical Symptoms Rashes including red ... believe that raw egg white consumption is the only cause of biotin deficiency. Nonetheless, a diet that contains an excess of raw egg whites quickly and almost invariably leads to biotin deficiency. Total parenteral nutrition without biotin supplementation Several cases of biotin deficiency in patients ... biotin in TPN preparations. Protein deficiency A shortage of proteins involved in biotin homeostasis can cause biotin deficiency. The main proteins involved in biotin homeostasis are HCS, BTD biotinidase deficiency and SMVT Anticonvulsant therapy Prolonged use of certain drugs, especially phenytoin, primidone, and carbamazepine, may lead to biotin deficiency however, valproic acid therapy is less ... to biotin deficiency. Severe Malnourishment Prolonged oral antibiotic therapy Prolonged use of oral antibiotics has been associated with biotin deficiency. Alterations in the intestinal flora caused by the prolonged administration of antibiotics are presumed to be the basis for biotin deficiency. Genetic mutation Mikati et al 2006 reported a case of partial biotinidase deficiency plasma biotinidase ... that smoking can lead to marginal biotin deficiency because it speeds up biotin catabolism especially ... at low concentrations, deficiency is rare except in locations where malnourishment is very common ... also Biotinidase deficiency , Holocarboxylase synthetase deficiency , and Multiple carboxylase deficiency ... deficiency ascertained by family studies of index cases journal J. Inherit. Metab. Dis. volume ... gene and application of mutational analysis to newborn screening for biotinidase deficiency ... more details
Infobox Disease Name Galactokinase deficiency Image Dulcitol.svg Caption Galactitol DiseasesDB 29829 ICD10 ICD10 E 74 2 e 70 ICD9 ICD9 271.1 ICDO OMIM 230200 MedlinePlus eMedicineSubj ped eMedicineTopic 815 MeshID Galactokinase deficiency , also known as Galactosemia type 2 or GALK deficiency , ref name omim OMIM 230200 ref is an autosome autosomal dominance genetics recessive inborn errors of metabolism metabolic disorder marked by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose 1 phosphate by galactokinase . ref name Holton cite journal author Holton JB title Galactose disorders an overview journal J Inherit Metab Dis. volume 13 issue 4 pages 476&ndash 486 year 1990 pmid 2122114 doi 10.1007 BF01799505 ref The disorder is caused by mutations in the GALK1 gene, located on chromosome chromosome 17 17q24 McKusick, Kniffin, 2006 . Galactokinase catalyzes the first step of galactose phosphorylation in the Leloir pathway of intermediate metabolism. Galactokinase deficiency is one of the three inborn errors of metabolism that lead to hypergalactosemia. The disorder is inherited as an autosome autosomal dominance genetics recessive trait. Unlike classic galactosemia, which is caused by deficiency of galactose 1 phosphate uridyltransferase, galactokinase deficiency does not present with severe manifestations in early infancy. Its ... that, depending on milk consumption later in life, heterozygous carriers of galactokinase deficiency ... Image Autorecessive.jpg thumb right Galactokinase deficiency has autosomal recessive pattern of heredity inheritance . Galactokinase deficiency is an autosomal recessive disorder, ref name gd99 cite ... of galactokinase deficiency in Japanese patients journal J Hum Genet. volume 44 issue 6 pages ... galactose 1 phosphate uridyltransferase deficiency , the symptoms of galactokinase deficiency ... www.emedicine.com ped TOPIC815.HTM title Galactokinase Deficiency accessdate 2008 08 08 author Roth ... more details
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 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. Detection 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 older leaves show symptoms ... injury, disease, insect damage or environmental conditions. Therefore, nitrogen deficiency is most .... However, nitrogen deficiency can also be detected Plant tissue test Non destructive Tissue tests ... tissue test Chlorophyll fluorometers non destructively test for nitrogen deficiency. See also Nitrogen ... more details
Infobox disease Name Phosphofructokinase deficiency Image Caption DiseasesDB 5314 ICD10 ICD10 E 74 0 e 70 ICD9 ICD9 271.0 ICDO OMIM 232800 MedlinePlus eMedicineSubj med eMedicineTopic 913 MeshID D006014 Phosphofructokinase deficiency , also known as Glycogen storage disease type VII or Tarui s disease , ref WhoNamedIt synd 3022 ref ref name pmid14339001 cite journal author Tarui S, OKuno G, Ikura Y, Tanaka T, Suda M, Nishikawa M title Phosphofructokinase Deficiency In Skeletal Muscle. A New Type Of Glycogenosis journal Biochem. Biophys. Res. Commun. volume 19 issue 4 pages 517 23 year 1965 pmid 14339001 doi 10.1016 0006 291X 65 90156 7 url ref is metabolic disorder with autosomal recessive inheritance. It may affect humans as well as other mammal s especially dog s . ref name pmid8702726 cite journal pmid 8702726 url http www.jbc.org cgi pmidlookup?view long&pmid 8702726 doi 10.1074 jbc.271.33.20070 title Molecular Basis of Canine Muscle Type Phosphofructokinase Deficiency year 1996 author Stedman, H. journal Journal of Biological Chemistry volume 271 pages 20070 last2 Stedman first2 H last3 Rajpurohit first3 Y last4 Henthorn first4 PS last5 Wolfe first5 JH last6 Patterson first6 DF last7 Giger first7 U issue 33 ref In humans it is the least common type of glycogen storage disease . It was named after the Japanese Physician, Seiichiro Tarui 1927 , who was a native of Hyogo Prefecture in Japan. Pathophysiology In this condition, a deficiency of the M subunit PFKM of the phosphofructokinase enzyme impairs the ability of cells such as erythrocytes and Skeletal muscle rhabdomyocyte ... cite journal author Nakajima H, Raben N, Hamaguchi T, Yamasaki T title Phosphofructokinase deficiency ... Phosphofructokinase deficiency also presents in a rare infantile form. The infantile form causes severe myopathy and leads to death in infancy or early childhood. Diagnosis Other deficiency diseases ... RareDiseases 5686 Glycogen storage disease type 7 Muscle phosphofructokinase deficiency Tarui disease ... more details
T cell deficiency is a Deficiency medicine deficiency of T cell s, either caused by lymphocytopenia of T cells or by decreased function of individual T cells. It causes an immunodeficiency of cell mediated immunity . Classifications of causes anchor causes By complete versus partial deficiency Complete insufficiency of T cell function can result from hereditary condition s also called primary conditions such as severe combined immunodeficiency SCID , Omenn syndrome , and Cartilage hair hypoplasia . ref name Schwartz2011 http emedicine.medscape.com article 888372 overview Medscape T cell Disorders . Author Robert A Schwartz, MD, MPH Chief Editor Harumi Jyonouchi, MD. Updated May 16, 2011 ref Causes of partial insufficiencies of T cell function include acquired immune deficiency syndrome AIDS , and hereditary conditions such as DiGeorge syndrome DGS , chromosomal breakage syndrome s CBSs , and B cell and T cell combined disorder s such as ataxia telangiectasia AT and Wiskott Aldrich syndrome WAS . ref name Schwartz2011 Primary versus secondary anchor primary Primary immunodeficiency Primary or hereditary immunodeficiencies of T cells include some that cause complete insufficiency of T cells, such as severe combined immunodeficiency SCID , Omenn syndrome , and Cartilage hair hypoplasia . ref name Schwartz2011 Secondary or acquired causes are mainly ref name Bannister2006 http books.google.com books?id iPuvQDcqW88C&pg PA432 Page 432 , Chapter 22, Table 22.1 in cite book author Jones, Jane Bannister, Barbara A. Gillespie, Stephen H. title Infection Microbiology and Management publisher ... Thymic versus peripheral Causes of T cell deficiency by thymic hypoplasia can, in turn, be classified ... syndrome and Ataxia telangiectasia Peripheral or non thymic causes of T cell deficiency include Purine nucleoside phosphorylase deficiency , hyper IgM syndrome in turn including, for example, hyper ... deficiency are ref name Bannister2006 432 http books.google.com books?id iPuvQDcqW88C&pg PA432 ... more details
Infobox disease Name Tetrahydrobiopterin deficiency Image Tetrahydrobiopterin structure.png Caption Tetrahydrobiopterin DiseasesDB ICD10 ICD10 E 70 1 e 70 ICD9 ICD9 270.1 OMIM MedlinePlus eMedicineSubj ped eMedicineTopic 2226 MeshID Tetrahydrobiopterin deficiency THBD , BH sub 4 sub D , also called THB or BH sub 4 sub deficiency , is a rare metabolic disorder that increases the blood levels of phenylalanine . Phenylalanine is an amino acid obtained through the diet. It is found in all proteins and in some Sugar substitute artificial sweeteners . If tetrahydrobiopterin deficiency is not treated, excess phenylalanine can build up to harmful levels in the body, causing mental retardation and other serious health problems. High levels of phenylalanine are present from infancy in people with untreated tetrahydrobiopterin THB, BH sub 4 sub deficiency. The resulting signs and symptoms range from mild to severe. Mild complications may include temporary low muscle tone. Severe complications include mental retardation , movement disorders, difficulty swallowing, seizures, behavioral problems, progressive problems with development, and an inability to control Core temperature body temperature . It was first characterized in 1975. ref cite journal author Ponzone A, Spada M, Ferraris S, Dianzani I, de Sanctis L title Dihydropteridine reductase deficiency in man from biology to treatment journal ... , about 30 of newborns with elevated levels of phenylalanine have a deficiency of THB. ref cite journal ... , PTS gene PTS and QDPR genes directly cause BH4 deficiency. Additionally, mutations of the MTHFR ... signals between nerve cells in the brain. THB deficiency can be caused by mutation s in one ... in the brain . Tetrahydrobiopterin deficiency also disrupts the levels of certain neurotransmitters ... deficiency has an Dominance genetics autosomal recessive pattern of inheritance. This condition ... of folinic acid in DHPR deficiency. ref cite journal author Shintaku H title Disorders of tetrahydrobiopterin ... more details
Refimprove article date March 2008 Infobox disease Name Iodine deficiency Image Caption DiseasesDB 6933 ... no marine foods are eaten iodine deficiency gives rise to goiter so called endemic goiter , as well ... billion individuals had insufficient iodine intake, a third being of school age. ... Thus iodine deficiency ... 6736 08 61009 0 fulltext title Iodine deficiency way to go yet date 12 July 2008 journal The Lancet ..., water and milk in areas of deficiency. ref cite web title The Iodine Deficiency Disorders ... Nutrition Iodine in Seaweed Bot generated title ref Thus, iodine deficiency is more common in mountainous ... deficiency, levels of triiodiothyronine T sub 3 sub may be elevated in the presence of low levels ... , New Zealand , and several Europe an countries, iodine deficiency is a significant public health ... of iodine deficiency journal Bull. World Health Organ. volume 83 issue 7 pages 518 25 year 2005 pmid ... damaged. Cretinism main Cretinism Iodine deficiency is one of the leading causes of preventable ... IQ points. It has been speculated that deficiency of iodine and other micronutrients may be a possible ... discussion of this controversial issue. Cretinism is a condition associated with iodine deficiency and goiter, commonly characterised by mental deficiency, deaf mutism, squint, disorders of stance and gait ... deficiency. Denis Diderot Diderot , in his 1754 Encyclop die , described these patients as cr tins ... valleys of the Alps in particular. The word cretin appeared in English in 1779. Deficiency In areas ... climates where no marine foods are eaten, iodine deficiency gives rise to hypothyroidism, symptoms ... url http books.google.com ?id AZUUGrp6yUgC&pg RA1 PA351 ref Iodine deficiency is the leading cause ... eliminated this problem in the wealthier nations, but as of March 2006, iodine deficiency remained ... Iodine deficiency is also a problem in certain areas of Europe. In Germany it has been estimated to cause ... L title Iodine deficiency and therapeutic considerations journal Altern Med Rev volume 13 page ... more details
Infobox disease Name Zinc Deficiency Image Zn TableImage.png Caption Zinc DiseasesDB 14272 ICD10 ICD10 E 60 e 50 ICD9 ICD9 269.3 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID Zinc deficiency ... metabolic needs. Prevalence In fact, one third of the world population is at risk of zinc deficiency, ranging from 4 to 73 depending on the country. Zinc deficiency is the fifth leading risk factor .... Conservative estimates suggest that 25 of the world s population is at risk of zinc deficiency. ref ... deficiency, but can also be associated with malabsorption , diarrhea , acrodermatitis enteropathica ... AS title Zinc deficiency Has been known of for 40 years but ignored by global health organisations ... surgery . Zinc deficiency is typically the result of inadequate dietary intake of zinc, disease ... Nutr. Bull. 22 138 154 ref ref cite journal author Sandstead HH title Zinc deficiency. A public health ... ref Signs and symptoms Signs of zinc deficiency include leukonychia white spots on the nails ... with zinc. A deficiency in zinc can cause malfunctions of these organs and functions. Congenital abnormalities causing zinc deficiency may lead to a disease called acrodermatitis enteropathica . Anorexia Main Anorexia symptom Zinc deficiency may cause a decrease in appetite which can degenerate into anorexia ... is a cause of zinc deficiency, thus leading to a vicious cycle the worsening of anorexia worsens the zinc deficiency. The use of zinc in the treatment of anorexia has been advocated since 1979 by Bakan ... increase in the treatment of anorexia nervosa AN . Deficiency of other nutrients such as tyrosine and tryptophan ... children. Zinc deficiency can interfere with many organ systems especially when it occurs during a time .... ref name MM cite journal author Black MM title The Evidence Linking Zinc Deficiency with Children ... functioning. ref name Black cite journal author Black MM title Zinc deficiency and child development ... instances. An increasing amount of evidence suggests that zinc deficiency could play a causal role ... more details
Orphan date February 2009 Infobox disease Name Yin deficiency Image Caption DiseasesDB ICD10 ICD9 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID D016710 Yin deficiency is a claimed ref http www.planetherbs.com articles Hepatis 20C.htm planetherbs.com ref ref Cite journal author Zhang Q title Clinical investigation on characteristics of traditional Chinese medical syndrome of hepatocirrhosis language Chinese journal Zhong Xi Yi Jie He Xue Bao volume 1 issue 2 pages 108 12 year 2003 pmid 15339580 doi 10.3736 jcim20030207 author separator , author2 Liu P author3 Cheng HF display authors 3 last4 Chen first4 L last5 Cao first5 SH last6 Liu first6 Y last7 Wei first7 JJ last8 Fang first8 ZH last9 Wu first9 DZ ref cause of cirrhosis . References Reflist Category Alternative medicine Category Hepatology alt med stub ... more details
Infobox Disease Name Aromatase deficiency Image Testosterone estradiol conversion.png Caption Aromatase converts testosterone to estradiol DiseasesDB 29906 ICD10 ICD9 ICDO OMIM 107910 MedlinePlus eMedicineSubj eMedicineTopic MeshID Aromatase deficiency is a condition resulting from insufficient production of the enzyme aromatase , ref name pmid8530621 cite journal author Morishima A, Grumbach MM, Simpson ER, Fisher C, Qin K title Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens journal J. Clin. Endocrinol. Metab. volume 80 issue 12 pages 3689 98 year 1995 month December pmid 8530621 doi 10.1210 jc.80.12.3689 url http jcem.endojournals.org cgi pmidlookup?view long&pmid 8530621 ref which can lead to inappropriate virilization . One notable feature is that it can also affect the mother during gestation that resolves after birth. ref name pmid17452968 cite journal author Jones ME, Boon WC, McInnes K, Maffei L, Carani C, Simpson ER title Recognizing rare disorders aromatase deficiency journal Nat Clin Pract Endocrinol Metab volume 3 issue 5 pages 414 21 year 2007 month May pmid 17452968 doi 10.1038 ncpendmet0477 ref The deficiency also causes the virilization of XX fetuses, and although they will have normal female internal genitalia , clitoromegaly often results from the high androgen levels in utero, along with ambiguous external genitalia upon birth. Testosterone may be normal or elevated. ref name pmid18448329 cite journal author Zirilli L, Rochira V, Diazzi C, Caffagni G, Carani C title Human models of aromatase deficiency journal J. Steroid Biochem. Mol. Biol. volume 109 issue 3 5 pages 212 8 year 2008 month April pmid 18448329 doi 10.1016 j.jsbmb.2008.03.026 url http linkinghub.elsevier.com retrieve pii S0960 0760 08 00051 4 ref The lack of estrogen results in the presentation of primary amenorrhea and tall stature the latter occurs because estrogen normally causes fusion of the epiphyseal growth plates ... more details
Infobox disease Name CD25 deficiency Image Caption DiseasesDB ICD10 ICD9 ICDO OMIM 606367 MedlinePlus eMedicineSubj eMedicineTopic MeshID CD25 deficiency or interleukin 2 receptor alpha deficiency is an immunodeficiency disorder associated with mutations in the IL 2 receptor interleukin 2 receptor alpha CD25 IL2RA gene. The mutations cause Gene expression expression of a defective chain or complete absence thereof, an essential part of high affinity interleukin 2 IL 2 receptors. The result is a syndrome described as IPEX syndrome IPEX like ref name Caudy2007 cite journal title CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X linked like syndrome, and defective IL 10 expression from CD4 lymphocytes journal J Allergy Clin Immunol year 2007 volume 119 pages 482 7 doi 10.1016 j.jaci.2006.10.007 pmid 17196245 author Caudy AA, Reddy ST, Chatila T, Atkinson JP, Verbsky JB ref or a Severe combined immunodeficiency SCID ref name Bonilla2003 cite journal title 12. Primary immunodeficiency diseases journal J Allergy Clin Immunol year 2003 volume 111 issue 2 Suppl pages S571 81 doi 10.1067 mai.2003.86 pmid 12592303 author Bonilla FA, Geha RS ref . In one patient, deficiency of CD25 on CD4 lymphocytes caused significantly impaired sensitivity to IL 2. This was demonstrated by a lack of measurable response in anti inflammatory interleukin 10 IL 10 secretion to low dose IL 2 incubation. Greatly reduced IL 10 secretion compared to healthy humans results in a syndrome comparable to IPEX syndrome, a type of autoimmunity which is caused by FoxP3 transcription factor dysfunction. In addition to IPEX like symptoms, CD25 deficiency increases susceptibility to viral infections ref name Caudy2007 and possibly fungal and bacterial infections. As IL 2 is an important inducer of lymphocyte Cell proliferation proliferation , the absence of highly sensitive IL 2 receptors may also significantly hinder activation and clonal expansion of CD8 lymphocyte CD8 and CD4 ... more details
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 cite journal doi 10.1016 S0278 2391 03 00163 0 title Heterozygous pseudocholinesterase deficiency A case report and review of the literature year 2003 last1 Maiorana first1 A journal Journal of Oral and Maxillofacial Surgery volume 61 issue 7 pages 845 7 pmid 12856264 last2 Roach Jr first2 RB ref An exhaustive list of drugs that are normally metabolism metabolized by the pseudocholinesterase enzyme can be found in the following section. Impacted ... prevalence of pseudocholinesterase deficiency in the Hindu Arya Vysya community. A study performed in Coimbatore ... deficiency, which translates to a prevalence that is 4000 fold higher than that in European ... ref Persian Jews Pseudocholinesterase deficiency anesthesia sensitivity is an autosomal recessive ... drugs to a person with pseudocholinesterase deficiency, the patient experiences prolonged paralysis ... off despite the deficiency of the pseudocholinesterase enzyme. If the patient is maintained ... . This enzyme abnormality is a benign condition unless a person with pseudocholinesterase deficiency ... www.emedicine.com med topic1935.htm Pseudocholinesterase deficiency . Retrieved Mar. 13, 2007. ref ... given as muscle relaxants prior to surgery. That means that victims of this deficiency cannot receive ... Knockout Mouse as a Model for Human Butyrylcholinesterase Deficiency year 2007 last1 Li first1 B. last2 ... and surrounding tissues. ref name emed Daniel R Alexander. 2006 . Pseudocholinesterase Deficiency ... DEFAULTSORT Pseudocholinesterase Deficiency Category Enzymes ... more details
Infobox disease Name Selenium deficiency Image Se TableImage.png Caption Selenium DiseasesDB 11941 ICD10 ICD10 E 59 e 50 ICD9 ICD9 269.3 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID Selenium deficiency is relatively rare in healthy well nourished individuals. Few cases have been reported. Causes It can occur in patients with severely compromised intestine intestinal function, those undergoing total parenteral nutrition , those who have had gastrointestinal bypass surgery, and also on advanced aged people over 90 . ref cite journal first1 Giovanni last1 Ravaglia first2 Paola last2 Forti first3 Fabiola last3 Maioli first4 Luciana last4 Bastagli first5 Andrea last5 Facchini first6 Erminia last6 Mariani first7 Lucia last7 Savarino first8 Simonetta last8 Sassi first9 Domenico last9 Cucinotta title Effect of micronutrient status on natural killer cell immune function in healthy free living subjects aged 90 y journal American Journal of Clinical Nutrition pmid 10648276 url http www.ajcn.org cgi pmidlookup?view long&pmid 10648276 year 2000 volume 71 issue 2 pages 590 8 Unreliable medical source date March 2012 ref Alternatively, people dependent on food grown from selenium deficient soil are also at risk. For some time now in medical literature it has been noted the pattern of side effects associated with cholesterol lowering drugs statins resembles the pathology of selenium deficiency. ref cite journal pmid 15031036 year 2004 last1 Moosmann first1 B last2 Behl first2 C title ... ref Presentation Selenium deficiency in combination with Coxsackievirus infection can lead to Keshan disease , which is potentially fatal. Selenium deficiency also contributes along with iodine deficiency ... ref name tp92 c3 , and as such a deficiency can cause symptoms of hypothyroidism , including extreme ... where the intake is low ref name urlSelenium Mineral Deficiency and Toxicity Merck Manual Professional cite web url http www.merck.com mmpe sec01 ch005 ch005i.html title Selenium Mineral Deficiency ... more details
Hyaluronidase deficiency also known as Mucopolysaccharidosis type IX is a condition caused by mutations in HYAL1 , and characterized by multiple soft tissue masses. 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 pages isbn 0 7216 2921 0 oclc doi accessdate ref rp 544 See also Morquio syndrome Hunter syndrome Hurler syndrome Skin lesion References reflist Cutaneous condition stub Category Skin conditions resulting from errors in metabolism ... more details
Merge to Cant road rail discuss Talk Cant deficiency Merge with Cant road rail upon improvement date October 2009 Unreferenced date May 2008 The term cant deficiency is defined in the context of travel of a rail transport rail vehicle at constant speed on a constant radius curve. Cant road rail Cant itself is a British synonym for the superelevation of the curve, that is, the elevation of the outside rail minus the elevation of the inside rail. Cant deficiency is present when a vehicle s speed on a curve is greater than the speed at which the components of wheel to rail force normal to the plane of the track would be the same in aggregate for the outside rails as for the inside rails. The forces that bear on the vehicle in this context are illustrated in the following figure. Image Ltk balance diagram w alpha.jpg thumb centre 300px A vehicle s motion at speed v along a circular path embodies centripetal acceleration of magnitude v sup 2 sup R toward the center of the circle, the curvature of that path being 1 R where R is the radius of the circle. This centripetal acceleration is produced by horizontal forces applied by the rails to the wheels of the vehicle, directed toward the center, and having sum equal to Mv sup 2 sup R where M is the mass of the vehicle. The net horizontal force ... exceeds the balance speed is conveniently expressed via the so called cant deficiency, i.e., by the amount ... deficiency, CD , is given by the formula math CD gauge se over left 1 R 2 g 2 over V act 4 right tfrac ... km h 55.880 meters s, then the cant deficiency will be CD 4.67 inches 118.7 mm. On routes ... be set so that trains run with as much cant deficiency as is allowed, based on safety, on relevant ... safe cant deficiency was the requirement that the projection to the plane of the track of the resultant ... deficiency. However, if on such a curve some trains regularly travel at low speeds, then raising ... by a passenger rail company some kind of compromise may be needed. Cant deficiency is generally ... more details
Infobox Disease Name Folate deficiency Image Folic acid structure.svg Width 350 Caption Folic acid B sub 9 sub DiseasesDB 4894 ICD10 ICD10 D 52 d 50 ICD10 E 53 8 e 50 ICD9 ICD9 266.2 ICDO OMIM MedlinePlus 000354 eMedicineSubj med eMedicineTopic 802 MeshID D005494 Folate deficiency is a lack of folic acid in the diet and the signs are often subtle. Folate deficiency anemia is the medical name given for the condition. ref cite book last1 Huether first1 Sue last2 McCance first2 Kathryn title Understanding Pathophysiology edition 3rd year 2004 publisher Mosby isbn 0 323 02368 1 page 543 chapter 20 ref Symptoms Loss of appetite , and weight loss can occur. Additional signs are weakness , sore tongue, headache s, heart palpitation s, irritability , and behavioral disorder s. ref name Oldref 20 cite ... acid deficiency journal Journal of the Royal Society of Medicine volume 91 issue 2 year 1998 pages 72 3 pmid 9602741 pmc 1296488 ref Women with folate deficiency who become pregnant are more likely ... defects . In adults, anemia macrocytic, megaloblastic anemia can be a sign of advanced folate deficiency. In infants and children, folate deficiency can slow growth rate. Late studies suggested an involvement ... folate deficiency. It is important to have a physician evaluate these symptoms so that appropriate medical ... ref name vitaminB12andFolate Causes A deficiency of folate can occur when the body s need for folate ... Stolzenberg R title Possible folate deficiency with postsurgical infection journal Nutrition in Clinical ... to ultraviolet light , including the use of tanning bed s, can lead to a folic acid deficiency. http ... foods, thus helping to prevent folate deficiency see USDA reference in the steaming article . Folate deficiency during human pregnancy has been associated with an increased risk of infant neural tube defects. Such deficiency during the first four weeks of gestation can result in structural ... links GPnotebook 496631815 Nutritional pathology DEFAULTSORT Folate Deficiency Category Vitamin deficiencies ... more details
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