Selection An Improved Human Mitochondrial Molecular Clock. and its http download.cell.com AJHG ... Human mitochondrial DNA haplogroup Mitochondrial macro haplogroups Haplogroup L0 mtDNA L0 ... , Mitochondrial Eve refers to the matrilineal most recent common ancestor MRCA of modern humans . In other ... person. Because all mitochondrial DNA mtDNA is generally passed from mother to offspring without recombination biology recombination , all mitochondrial DNA mtDNA in every living person is directly descended from hers by definition. Mitochondrial Eve is the female counterpart of Y chromosomal Adam ... now with one or more males in their descendancy line . But none of the female contemporaries of the Mitochondrial Eve has descendants living now in an unbroken female line. Mitochondrial Eve is estimated ... N, et al. title Correcting for purifying selection an improved human mitochondrial molecular clock ... other human sub species. Mitochondrial Eve lived later than Homo heidelbergensis and the emergence ... first3 M last4 Stringer first4 C title Evaluating the mitochondrial timescale of human evolution ... and mitochondrial ancestry further2 Genetic genealogy matrilineal Mitochondrial DNA Human mitochondrial ... drift or selection the female lineage will trace back to a single female, such as Mitochondrial Eve ... line descended from mtDNA MRCA. File Mitochondrial eve tree.gif thumb right 250px Simplified Human mitochondrial phylogeny Without a DNA sample, it is not possible to reconstruct the complete genetic ... of ancestral genomes are estimated by scientists. Mitochondrial DNA mtDNA and Y chromosome Y chromosome ... of human mitochondrial DNA journal PNAS volume 77 issue 11 pages 6715 6719 url http www.pnas.org ... lineages converge. Branches are identified by one or more unique markers which give a mitochondrial ... sort mitochondrial DNA results into more or less related groups, with more or less recent common ancestors ... clade s, and the common ancestors such as Mitochondrial Eve sit at branching points in this tree ... more details
The mitochondrial shuttles are systems used to transport reducing agents across the inner mitochondrial membrane . NADH cannot cross the membrane, but it can reduce another molecule that can cross the membrane, so that its electrons can reach the electron transport chain . The two main systems in humans are class wikitable Name In, to mitochondrion To electron transport chain ETC Out, to cytosol Glycerol phosphate shuttle glycerol 3 phosphate Coenzyme Q QH sub 2 sub 2 ATP dihydroxyacetone phosphate Malate aspartate shuttle malate Nicotinamide adenine dinucleotide NADH 3 ATP oxaloacetate ref name ufp Silva, Pedro. http www2.ufp.pt pedros bq respi.htm The chemical logic behind... Fermentation and Respiration , Universidade Fernando Pessoa , 2002 01 04. Retrieved on 2009 04 02. ref aspartate In humans, the glycerol phosphate shuttle is primarily found in brown adipose tissue , as the conversion is less efficient, thus generating heat, which is one of the main purposes of brown fat. It is primarily found in babies, though it is present in small amounts in adults around the kidneys and on the back of our necks. ref name ufp The malate aspartate shuttle is found in much of the rest of the body. Notes and references reflist Category Cellular respiration biochem stub ca Llan adora mitocondrial zh ... 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 ... , which is complex IV in mitochondrial electron transport chain , ceruloplasmin , Cu Zn superoxide ..., 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 ... more details
lead to Protein S deficiency which is a rare blood disorder which can lead to an increased risk of thrombosis ... R, Daly ME title The prevalence of, and molecular defects underlying, inherited protein S deficiency ... author Garc a de Frutos P, Fuentes Prior P, Hurtado B, Sala N title Molecular basis of protein S deficiency ... author Allaart CF, Aronson DC, Ruys T, et al. title Hereditary protein S deficiency in young ... doi cite journal author Schwarz HP, Heeb MJ, Lottenberg R, et al. title Familial protein S deficiency ... Engesser L, Broekmans AW, Bri t E, et al. title Hereditary protein S deficiency clinical manifestations ...PBB geneid 5627 Protein S is a vitamin K dependent plasma glycoprotein synthesized in the endothelium. In the circulation, Protein S exists in two forms a free form and a complex form bound to complement system complement protein C4b binding protein C4BP . In humans, protein S is encoded by the PROS1 ... B, Stenflo J, Wydro R title Isolation and sequence of the cDNA for human protein S, a regulator ... url ref In 1979, researchers in Seattle , Washington first discovered protein S and arbitrarily ... X Stuart factor , and protein S journal Biochemistry volume 16 issue 4 pages 698 706 year 1977 ... RG, Davie EW title Characterization of protein S, a gamma carboxyglutamic acid containing protein ... March pmid 420821 doi 10.1021 bi00572a026 ref Function The best characterized function of Protein S is its role in the anti coagulation pathway, where it functions as a cofactor to Protein C in the inactivation .... ref name pmid18695379 cite journal author Castoldi E, Hackeng TM title Regulation of coagulation by protein ... 18695379 doi 10.1097 MOH.0b013e328309ec97 url ref Protein S can bind to negatively charged phospholipids via the carboxylated Gla domain GLA domain . This property allows Protein S to function in the removal ... such as macrophages . Protein S can bind to the negatively charged phospholipids and function as a bridging molecule between the apoptotic cell and the phagocyte. The bridging property of Protein ... 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 ... Lachant NA, Jennings MA, Tanaka KR title Partial erythrocyte enolase deficiency a hereditary disorder ... author Lachant NA, Tanaka KR title Enolase kinetic properties in partial erythrocyte enolase deficiency ... 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 ... step in glycolysis . Enolase is a dimeric protein formed from three subunits, , , and , encoded ... gene, the gene encoding enolase, to be responsible for the deficiency, both mutations changed ... may impair activity by significantly reducing the steady state level of the protein, rather than produce a non functional mutant protein. Mutations of the of enolase dimer complexes might result in incorrect folding and increased susceptibility to protein degradation thus causing the deficiency. ref name comi Similar mutations on yeast showed destabilization of the protein and decreased substrate affinity. Destabilization of the protein results in partial dissociation chemistry dissociation ... more details
Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell. This situation 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 ... deficiency, because egg whites contain high levels of avidin . The name avidin literally means that the protein ...Infobox disease Name Biotinidase deficiency Image Biotin structure.svg Caption Biotin DiseasesDB 29822 ... 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 ... more details
mitosyn.html fumaratehydratase Mitochondrial Disorders Fumarase Deficiency at Washington University ...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 ... 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 recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes journal ... 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 ... Deficiency Category Amino acid metabolism disorders Category Autosomal recessive disorders Category ... more details
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 ...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 ... more details
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
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
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 ... tightly bound to the protein transferrin . There are several mechanisms that control human 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 ... more details
Pfam box Symbol SpA Name Protein A image Protein A 1DEE 1L6X.png width caption Structure of a domain of protein A as a three helix bundle binding to the heavy variable chain of a VH3 human Fab ref name ... JB, Silverman GJ. title Crystal structure of a Staphylococcus aureus protein A domain complexed with the Fab ... month May pmid 10805799 doi pmc 25840 ref left. Minimized protein A bound to Fc fragment of Rituximab ... April pmid 10754313 doi ref Pfam InterPro SMART PROSITE SCOP 1DEE TCDB OPM family OPM protein PDB PDB2 1dee , PDB2 1l6x Protein A is a 56 Atomic mass unit kDa MSCRAMM surface protein originally found ... and phagocytosis . Protein A antibody binding Protein A binds with high affinity to human IgG1 and IgG2 as well as mouse IgG2a and IgG2b. Protein A binds with moderate affinity to human IgM ... or IgD , nor will it react to mouse IgM, IgA or IgE. The capacity of protein A to bind antibodies with such high .... The protein A used for production of antibodies in bio pharmaceuticals is most commonly bound to a stationary phase chromatography resin. Other antibody binding proteins In addition to Protein A, other immunoglobulin binding bacterial proteins such as Protein G , Protein A G and Protein L are all ... Staphylococcus aureus utilizes Protein A, along with a host of other proteins and surface factors to aid its survival and, thus, virulence. Protein A helps inhibit phagocytic engulfment and acts as an immunological disguise. Mutants of S. aureus lacking protein A are more efficiently phagocytosed ... toxin. J. Exp. Med. 2003 197 1125 1139. ref Research Recombinant Staphylococcal Protein ... form of Protein A is called MabSelect. ref http www.gelifesciences.com aptrix upp00919.nsf Content 17D93C2E6A580E57C1257628001CE677 file 18114994AE.pdf ref Protein A is often coupled to other molecules .... Protein A is often immobilized onto a solid support and used as reliable method for purifying total IgG from crude protein mixtures such as blood serum serum or ascites fluid, or coupled with one ... more details
of vitamin A WHO 1982 . Very often seen with vitamin A deficiency is protein energy malnutrition PEM ...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 ... more details
Unreferenced date December 2009 image Mitochondrie.svg thumb 300px Mitochondria structure br 1 Inner membrane br 2 Outer membrane br 3 Crista br 4 Matrix biology Matrix The outer mitochondrial membrane , which encloses the entire organelle, has a protein to phospholipid ratio similar to the eukaryotic plasma membrane about 1 1 by weight . It contains numerous integral protein s called Porin protein porin s , which contain a relatively large internal channel about 2 3 Nanometre nm that is permeable to all molecules of 5000 Atomic mass unit dalton s or less. Larger molecules can only traverse the outer membrane by active transport through mitochondrial membrane transport protein s. The outer membrane also contains enzyme s involved in such diverse activities as the elongation of fatty acid s, oxidation of epinephrine adrenaline , and the Biodegradation degradation of tryptophan . Mitochondrial enzymes See also Bacterial outer membrane MITOL mitochondrial ubiqutin ligase is localized in the mitochondrial outer membrane. DEFAULTSORT Outer Mitochondrial Membrane Category Membrane biology ca Membrana mitocondrial externa zh ... more details
biotin in TPN preparations. Proteindeficiency 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 ... A title Biotin deficiency in protein energy malnutrition implications for nutritional homeostasis and individuality ...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 ... levels of avidin , a protein that binds biotin strongly. When cooked, avidin is partially denaturation ... hydrolase biotinidase BTD , and the protein ligase holocarboxylase synthetase. When any of these regulatory 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 ... 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 ... more details
PBB geneid 56947 Mitochondrial fission factor Mff is a protein that in humans is encoded by the MFF gene . ref name entrez cite web title Entrez Gene mitochondrial fission factor url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 56947 accessdate ref Mff is an outer mitochondrial membrane protein that binds to the DNM1L Drp1 GTPases GTPase that controls mitochondrial fission . The Mff Drp1 complex promotes mitochondrial fission. ref Cite pmid 21149567 ref Mff also regulates peroxisome morphology. ref Cite pmid 18353969 ref References reflist Further reading refbegin cite journal author Igci YZ, Arslan A, Akarsu E, et al. title Differential expression of a set of genes in follicular and classic variants of papillary thyroid carcinoma. journal Endocr. Pathol. volume 22 issue 2 pages 86 96 year 2011 pmid 21509594 doi 10.1007 s12022 011 9157 8 refend gene 2 stub Category Mitochondria ... 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 ... 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 ... experiments of the GALK1 cDNA indicated that the protein is cytosolic and not associated with endoplasmic ... 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 proteindeficiency . 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
About a class of molecules protein as a nutrient Protein nutrient other uses pp semi indef File Myoglobin.png thumb right A representation of the 3D structure of the protein myoglobin showing colored alpha helix alpha helices . This protein was the first to have its structure solved by X ray crystallography ... folded into a globular protein globular or fibrous protein fibrous form, facilitating a biological ... . The peptide sequence sequence of amino acids in a protein is defined by the DNA sequence sequence ... archaea pyrrolysine . Shortly after or even during synthesis, the residues in a protein are often ... to form stable protein complex es. Like other biological macromolecules such as polysaccharide ... acid s from food. Through the process of digestion , animals break down ingested protein into free amino acids that are then used in metabolism. Proteins may be protein purification purified from ... made possible a number of methods to facilitate purification. Methods commonly used to study protein ... chains in a protein that ultimately determines its three dimensional structure and its chemical reactivity ... linked in the protein chain, an individual amino acid is called a residue, and the linked series of carbon, nitrogen, and oxygen atoms are known as the main chain or protein backbone. ref Murray ... structures of the peptide bond that links individual amino acids to form a protein polymer The peptide ... angle s in the peptide bond determine the local shape assumed by the protein backbone. ref Murray et al ., p. 31. ref The end of the protein with a free carboxyl group is known as the C terminus .... The words protein , polypeptide, and peptide are a little ambiguous and can overlap in meaning. Protein is generally used to refer to the complete biological molecule in a stable tertiary structure ... structure conformation . Synthesis Main Protein biosynthesis Image Ribosome mRNA translation en.svg thumb A ribosome produces a protein using mRNA as template. File Genetic code.svg thumb The DNA ... more details
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
Potassium deficiency has two different contexts For the medical condition in humans, see hypokalemia Potassium deficiency plants , the disease in plants disambig ... 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
protein Name mitochondrially encoded tRNA valine caption image width HGNCid 7500 Symbol MT TV AltSymbols MTTV EntrezGene 4577 OMIM RefSeq NC 001807 UniProt PDB ECnumber Chromosome MT Arm Band LocusSupplementaryData Mitochondrially encoded tRNA valine also known as MT TV is a transfer RNA which in humans is encoded by the mitochondrion mitochondrial MT TV gene . ref name pmid7219534 cite journal author Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG title Sequence and organization of the human mitochondrial genome journal Nature volume 290 issue 5806 pages 457 65 year 1981 month April pmid 7219534 doi 10.1038 290457a0 url ref MT TV is a small 69 nucleotide RNA human mitochondrial map position 1602 1670 that transfers the amino acid valine to a growing polypeptide chain at the ribosomal ribosome site of protein synthesis during translation genetics translation . References Reflist External links http www.ncbi.nlm.nih.gov books NBK1173 GeneReviews NCBI NIH UW entry on Mitochondrial DNA Associated Leigh Syndrome and NARP Mitochondrial enzymes genetics stub ... more details
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