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Glucose 6 phosphate dehydrogenase deficiency
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Encyclopedia results for Glucose 6 phosphate dehydrogenase deficiency

Glucose 6 phosphate dehydrogenase deficiency





Encyclopedia results for Glucose 6 phosphate dehydrogenase deficiency

  1. Quinoprotein glucose dehydrogenase

    enzyme Name quinoprotein glucose dehydrogenase EC number 1.1.5.2 CAS number 81669 60 5 IUBMB EC number 1 1 5 2 GO code 0008876 image width caption In enzymology , a quinoprotein glucose dehydrogenase EC number 1.1.5.2 is an enzyme that catalysis catalyzes the chemical reaction D glucose ubiquinone math rightleftharpoons math D glucono 1,5 lactone ubiquinol Thus, the two substrate biochemistry substrates of this enzyme are D glucose and ubiquinone , whereas its two product chemistry products are Glucono delta lactone D glucono 1,5 lactone and ubiquinol . This enzyme belongs to the family of oxidoreductase s, specifically those acting on the CH OH group of donor with a quinone or similar compound as acceptor. The systematic name of this enzyme class is D glucose ubiquinone oxidoreductase . Other names in common use include D glucose pyrroloquinoline quinone 1 oxidoreductase , glucose dehydrogenase PQQ dependent , glucose dehydrogenase pyrroloquinoline quinone , and quinoprotein D glucose dehydrogenase . This enzyme participates in pentose phosphate pathway . It employs one cofactor biochemistry ... of binding of pyrroloquinoline quinone to apo glucose dehydrogenase journal Agric. Biol. Chem. volume 49 pages 1227&ndash 1231 cite journal author Duine JA, Frank J, van Zeeland JK date 1979 title Glucose dehydrogenase from Acinetobacter calcoaceticus a quinoprotein journal FEBS. Lett. volume 108 pages 443&ndash 6 pmid 520586 doi 10.1016 0014 5793 79 80584 0 issue 2 cite journal author Yamada M, Sumi K, Matsushita K, Adachi O, Yamada Y date 1993 title Topological analysis of quinoprotein glucose dehydrogenase in Escherichia coli and its ubiquinone binding site journal J. Biol. Chem. volume 268 ... Reconstitution of membrane integrated quinoprotein glucose dehydrogenase apoenzyme with PQQ and the holoenzyme ... Active site structure of the soluble quinoprotein glucose dehydrogenase complexed with methylhydrazine ... 2001 title C terminal periplasmic domain of Escherichia coli quinoprotein glucose dehydrogenase transfers ...   more details



  1. Glucose dehydrogenase (acceptor)

    enzyme Name glucose dehydrogenase acceptor EC number 1.1.99.10 CAS number 37250 84 3 IUBMB EC number 1 1 99 10 GO code 0004344 image width caption In enzymology , a glucose dehydrogenase acceptor EC number 1.1.99.10 is an enzyme that catalysis catalyzes the chemical reaction D glucose acceptor math rightleftharpoons math D glucono 1,5 lactone reduced acceptor Thus, the two substrate biochemistry substrates of this enzyme are D glucose and Electron acceptor acceptor , whereas its two product chemistry products are Glucono delta lactone D glucono 1,5 lactone and Redox reduced acceptor. This enzyme belongs to the family of oxidoreductase s, specifically those acting on the CH OH group of donor with other acceptors. The systematic name of this enzyme class is D glucose acceptor 1 oxidoreductase . Other names in common use include glucose dehydrogenase Aspergillus , glucose dehydrogenase decarboxylating , and D glucose acceptor 1 oxidoreductase . This enzyme participates in pentose phosphate pathway . It employs one cofactor biochemistry cofactor , FAD . References reflist 1 cite journal author Bak TG date 1967 title Studies on glucose dehydrogenase of Aspergillus oryzae. II Purification and physical and chemical properties journal Biochim. Biophys. Acta. volume 139 pages 277&ndash 93 pmid 6034674 issue 2 1.1 enzyme stub Category EC 1.1.99 Category Flavin enzymes Category Enzymes of unknown structure it Glucosio deidrogenasi accettore ja ...   more details



  1. Glucose-6-phosphate dehydrogenase deficiency

    Infobox disease Name Glucose 6 phosphate dehydrogenase deficiency Image G6PD 3D structure PDB1qki.png Caption Glucose 6 phosphate dehydrogenase ICD10 ICD10 D 55 0 d 55 ICD9 ICD9 282.2 ICDO OMIM 305900 DiseasesDB 5037 MedlinePlus 000528 eMedicineSubj med eMedicineTopic 900 MeshID D005955 Glucose 6 phosphate dehydrogenase deficiency is an X linked recessive hereditary disease characterised by abnormally low levels of glucose 6 phosphate dehydrogenase abbreviated G6PD or G6PDH , a metabolic enzyme involved in the pentose phosphate pathway , especially important in red blood cell metabolism. G6PD deficiency ... causes life threatening haemolysis in glucose 6 phosphate dehydrogenase deficiency journal Arch. Dis ... glucose 6 phosphate dehydrogenase deficiency journal Can J Infect Dis volume 14 issue 4 pages 230 1 ... MD, Fiorelli G title Glucose 6 phosphate dehydrogenase deficiency journal Lancet volume 371 issue 9606 ... author Mehta A, Mason PJ, Vulliamy TJ title Glucose 6 phosphate dehydrogenase deficiency journal Baillieres ... G6PD deficiency anaemia thefreedictionary.com glucose 6 phosphate dehydrogenase deficiency citing ... X linked disorders DEFAULTSORT Glucose 6 Phosphate Dehydrogenase Deficiency Category Hereditary ... Jaundice.jpg thumb 220px This is a 4 year old boy diagnosed with Glucose 6 phosphate Dehydrogenase ... of G6PD Glucose 6 phosphate dehydrogenase G6PD is an enzyme in the pentose phosphate pathway see image, also known as the HMP shunt pathway . G6PD converts glucose 6 phosphate into 6 phosphoglucono ... Glucose 6 phosphate dehydrogenase Guadalajara a case of chronic non spherocytic haemolytic anaemia ... 6 phosphate dehydrogenase deficiency a historical perspective journal Blood volume 111 issue 1 pages ... g6pd The G6PDdb genetic and structural information database about glucose 6 phosphate ... 6 fosfat deshidrogenasa de Glucose 6 Phosphat Dehydrogenase Mangel dv 6 el es Deficiencia de glucosa 6 fosfato deshidrogenasa fa fr D ficit en glucose 6 phosphate ...   more details



  1. 6-phosphogluconate dehydrogenase deficiency

    orphan date December 2008 Infobox Disease Name 6 phosphogluconate dehydrogenase deficiency Image Caption DiseasesDB ICD10 ICD10 D 55 0 d 55 ICD9 ICDO OMIM 172200 MedlinePlus eMedicineSubj eMedicineTopic MeshID 6 Phosphogluconate dehydrogenase deficiency is a hereditary disease characterised by abnormally low levels of the 6 phosphogluconate dehydrogenase enzyme abbreviated 6PGD . It is a metabolic enzyme involved in the pentose phosphate pathway , especially important in red blood cell metabolism. Hematology Inborn errors of carbohydrate metabolism Category Inborn errors of carbohydrate metabolism endocrine disease stub ...   more details



  1. 17-beta-hydroxysteroid dehydrogenase deficiency

    refimprove date January 2008 Infobox Disease Name 17 beta hydroxysteroid dehydrogenase deficiency Image Caption DiseasesDB 32638 ICD10 ICD9 ICDO OMIM 264300 MedlinePlus eMedicineSubj eMedicineTopic MeshID 17 beta hydroxysteroid dehydrogenase III deficiency is a rare disorder of sexual development affecting testosterone biosynthesis, which can produce impaired virilization traditionally termed male pseudohermaphroditism of genetically male infants and children and excessive virilization of female adults. It is an autosomal recessive ref cite journal pmid 8550739 year 1996 month January author Andersson, S Geissler, Wm Wu, L Davis, Dl Grumbach, Mm New, Mi Schwarz, Hp Blethen, Sl Mendonca, Bb Bloise, W Witchel, Sf Cutler, Gb, Jr Griffin, Je Wilson, Jd Russel, Dw title Molecular genetics and pathophysiology of 17 beta hydroxysteroid dehydrogenase 3 deficiency volume 81 issue 1 pages 130 6 issn ... and females . Prevalence In the Netherlands, 17 beta hydroxysteroid dehydrogenase III deficiency is estimated ... 17 Hydroxysteroid Dehydrogenase 3 Deficiency Diagnosis, Phenotypic Variability, Population Genetics ... characteristics 17 beta hydroxysteroid dehydrogenase III deficiency is clinically characterized by either ... be found in the inguinal channel. Biochemistry 17 beta hydroxysteroid dehydrogenase III deficiency ... thumb right 17 beta hydroxysteroid dehydrogenase deficiency has an autosomal recessive pattern of inheritance. 17 beta hydroxysteroid dehydrogenase III deficiency is caused by mutation s found in the 17Beta Hydroxysteroid dehydrogenase 17BHSD3 gene. ref cite journal pmid 11158067 year 2001 month ... hydroxysteroid dehydrogenase 3 deficiency volume 86 issue 2 pages 921 3 issn 0021 972X journal The Journal ... biosynth 17BHSD3.jpg thumb center 400px Biochemical effects of 17 hydroxysteroid deficiency 3 in testosterone ... long&pmid 11158067 format Free full text doi 10.1210 jc.86.2.921 ref 17BHSD3 deficiency is an autosomal recessive disorder. See also 5 alpha reductase deficiency References Reflist External links OMIM ...   more details



  1. Dihydropyrimidine dehydrogenase deficiency

    Infobox disease Name Dihydropyrimidine dehydrogenase deficiency Image Caption DiseasesDB 29817 ICD10 ICD9 ICDO OMIM 274270 MedlinePlus eMedicineSubj eMedicineTopic MeshID D054067 Dihydropyrimidine dehydrogenase deficiency DPD deficiency is an autosome autosomal dominance genetics recessive ref name dpdar cite journal author Diasio RB, Beavers TL, Carpenter JT title Familial deficiency of dihydropyrimidine dehydrogenase biochemical basis for familial pyrimidinemia and severe 5 fluorouracil induced toxicity journal J Clin Invest. volume 81 issue 1 pages 47&ndash 51 month Jan year 1988 pmid 3335642 url http www.jci.org articles view 113308 format Free full text doi 10.1172 JCI113308 pmc 442471 ref metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase , an enzyme involved in the metabolism of uracil and thymine . Individuals with this condition may develop life threatening toxicity following exposure to 5 fluorouracil 5 FU , a chemotherapy ... dehydrogenase deficiency to do or not to do, that s the question volume 24 issue 2 pages 215 217 journal ... H, Fourie J, Diasio R title Dihydropyrimidine dehydrogenase deficiency impact of pharmacogenetics ... dehydrogenase deficiency in patients with cancer undergoing 5 fluorouracil capecitabine therapy volume 6 issue 4 pages 288 296 issn 1533 0028 journal Clinical colorectal cancer doi 10.3816 ... sciences ref Genetics Image Autorecessive.jpg thumb right Dihydropyrimidine dehydrogenase deficiency has an autosomal recessive pattern of inheritance . DPD deficiency is inherited in an autosomal ... Site dedicated exclusively to DPD Deficiency and Fluorouracil 5 FU Toxicity related issues dpd deficiency.com RareDiseases 19 Dihydropyrimidine dehydrogenase deficiency Purine, pyrimidine, porphyrin ... has at least partial DPD deficiency. A diagnostics determination test for DPD deficiency ... role in DPD deficiency. It is more common among African Americans than it is among Caucasian ...   more details



  1. Pyruvate dehydrogenase deficiency

    Infobox Disease Name Pyruvate dehydrogenase deficiency Image Caption DiseasesDB 30060 ICD10 ICD10 E 74 4 e 70 ICD9 ICD9 271.8 ICDO OMIM 312170 MedlinePlus eMedicineSubj ped eMedicineTopic 1969 MeshID D015325 Pyruvate Dehydrogenase Deficiency PDH is a genetic disease that involves human metabolism. Inheritance and pathophysiology It most commonly follows an X linked inheritance pattern, but is approximately equally prevalent in both males and females. This is because heterozygote females commonly manifest severe symptoms, an unusual situation in X linked conditions. Due to the genes involved being essential to life, some of the genetic causes are extremely rare in the order of 1 in millions. It affects a gene which codes for a critical enzyme complex, the Pyruvate dehydrogenase complex PDC which links the metabolic pathways of glycolysis and the citric acid cycle by transforming pyruvate into Acetyl CoA The pyruvate dehydrogenase complex facilitates oxidative decarboxylation , the chemical reaction between glycolysis and the citric acid cycle . Deficiencies of the regulatory complex pyruvate dehydrogenase phosphatase have also been investigated. ref name pmid16574315 cite journal author Maj MC, Cameron JM, Robinson BH title Pyruvate dehydrogenase phosphatase deficiency orphan disease or an under diagnosed condition? journal Mol. Cell. Endocrinol. volume 249 issue 1 2 pages 1 9 year 2006 month April pmid 16574315 doi 10.1016 j.mce.2006.02.003 url http linkinghub.elsevier.com retrieve pii S0303 7207 06 00051 7 ref Presentation PDH causes Lactic acidosis large amounts of lactic ... death. Genetics PDH deficiency is most commonly linked to the alpha unit of Pyruvate dehydrogenase ... DW, Shuster J, Stacpoole PW title Therapeutic potential of dichloroacetate for pyruvate dehydrogenase complex deficiency journal Mitochondrion volume 6 issue 3 pages 126 35 year 2006 month June pmid ... 10 issue 6 pages 410 9 year 2008 month November pmid 18990309 pmc 2898565 doi 10.1007 s11940 008 ...   more details



  1. Propanediol-phosphate dehydrogenase

    enzyme Name propanediol phosphate dehydrogenase EC number 1.1.1.7 CAS number 9028 15 3 IUBMB EC number 1 1 1 7 GO code 0050216 image width caption In enzymology , a propanediol phosphate dehydrogenase EC number 1.1.1.7 is an enzyme that catalysis catalyzes the chemical reaction propane 1,2 diol 1 phosphate NAD sup sup math rightleftharpoons math hydroxyacetone phosphate NADH H sup sup Thus, the two substrate biochemistry substrates of this enzyme are propane 1,2 diol 1 phosphate and nicotinamide adenine dinucleotide NAD sup sup , whereas its 3 product chemistry products are hydroxyacetone phosphate , nicotinamide adenine dinucleotide NADH , and hydrogen ion H sup sup . This enzyme belongs to the family of oxidoreductase s, specifically those acting on the CH OH group of donor with NAD or NADP as acceptor. The systematic name of this enzyme class is propane 1,2 diol 1 phosphate NAD oxidoreductase . Other names in common use include PDP dehydrogenase , 1,2 propanediol 1 phosphate NAD oxidoreductase , and propanediol phosphate dehydrogenase . References reflist 1 cite journal author Sellinger OZ and Miller ON date 1959 title The metabolism of acetol phosphate. II. 1,2 Propanediol 1 phosphate dehydrogenase journal J. Biol. Chem. volume 234 pages 1641&ndash 1646 pmid 13672935 issue 7 1.1.1 enzyme stub Category EC 1.1.1 Category NADH dependent enzymes Category Enzymes of unknown structure it Propanodiolo fosfato deidrogenasi ja ...   more details



  1. 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

    Infobox Disease Name 3 hydroxyacyl coenzyme A dehydrogenase deficiency Image Caption DiseasesDB 34396 ICD10 ICD9 ICDO OMIM 601609 OMIM mult OMIM2 231530 MedlinePlus eMedicineSubj eMedicineTopic MeshID 3 hydroxyacyl coenzyme A dehydrogenase deficiency HADH deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during fasting. Normally, through a process called fatty acid oxidation , several enzymes work in a step wise fashion to metabolize fats and convert them to energy. People with 3 hydroxyacyl coenzyme A dehydrogenase deficiency have inadequate levels of an enzyme required for a step that metabolizes groups of fats called medium chain fatty acid s and short chain fatty acid s for this reason this disorder is sometimes called medium and short chain 3 hydroxyacyl coenzyme A dehydrogenase M SCHAD deficiency. Typically, initial signs and symptoms of this disorder occur during infancy or early childhood and can include poor appetite, vomiting, diarrhea, lethargy , hypoglycemia , hypotonia , liver problems, and abnormally high levels of hyperinsulinism . Insulin controls the amount of sugar that moves from the blood into cells for conversion to energy. Individuals with 3 hydroxyacyl coenzyme A dehydrogenase deficiency are also at risk for complications such as seizures, life threatening heart and breathing problems, coma, and sudden unexpected death. Problems related to 3 hydroxyacyl coenzyme A dehydrogenase deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome , a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated ... Genetics Home Reference 3 hydroxyacyl coenzyme A dehydrogenase deficiency Fatty acid metabolism disorders ... levels of an enzyme called 3 hydroxyacyl coenzyme A dehydrogenase . Medium chain and short chain ...   more details



  1. 2-Methylbutyryl-CoA dehydrogenase deficiency

    Infobox disease Name 2 Methylbutyryl CoA dehydrogenase deficiency Image 2 Methylbutanoyl CoA.png Caption 2 Methylbutyryl CoA DiseasesDB 34413 ICD10 ICD9 ICDO OMIM 610006 MedlinePlus eMedicineSubj eMedicineTopic MeshID 2 Methylbutyryl CoA dehydrogenase deficiency , also called 2 Methylbutyryl glycinuria or short branched chain acyl CoA dehydrogenase deficiency SBCADD , ref name omim OMIM 610006 2 Methylbutyryl CoA dehydrogenase deficiency ref is an autosome autosomal dominance genetics recessive inborn errors of metabolism metabolic disorder . ref name aur07 cite pmid 17883863 ref It causes the body to be unable to process the amino acid isoleucine properly. Signs and symptoms Untreated SBCADD can lead to progressive loss of motor skills , mental retardation and epilepsy . Citation needed date April 2011 Cause and genetics Image Autorecessive.jpg thumb right 2 Methylbutyryl CoA dehydrogenase deficiency has an autosomal recessive pattern of inheritance. The disorder is caused by a mutation in the ACADSB gene , located on the long arm of human chromosome 10 human chromosome 10 10q25 q26 . ref name omim ref cite pmid 17945527 ref It is inherited in an autosomal recessive manner. ref name aur07 This means the defective gene responsible for the disorder is located on an autosome chromosome 10 is an autosome , and two copies of the defective gene one inherited from each parent are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both genetic carrier carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder. References reflist External links http www.wadsworth.org newborn babhealth.htm Short descriptions of genetic disorders from wadsworth.org Amino acid metabolic pathology Category Amino acid metabolism disorders Category Autosomal recessive disorders Genetic disorder stub ...   more details



  1. Isobutyryl-coenzyme A dehydrogenase deficiency

    No footnotes date March 2011 Infobox Disease Name Isobutyryl coenzyme A dehydrogenase deficiency Image L valine skeletal.svg Caption Valine DiseasesDB 34225 ICD10 ICD9 ICDO OMIM 604773 MedlinePlus eMedicineSubj eMedicineTopic MeshID Isobutyryl coenzyme A dehydrogenase deficiency , commonly known as IBD deficiency , is a rare metabolic disorder in which the body is unable to process certain amino acid s properly. People with this disorder have inadequate levels of an enzyme that helps break down the amino acid valine , resulting in a build up of valine in the urine, a symptom called valinuria . Diagnosis Babies with this disorder are usually healthy at birth. The signs and symptoms may not appear until later in infancy or childhood and can include poor feeding and growth failure to thrive , a weakened and enlarged heart dilated cardiomyopathy , seizures, and low numbers of red blood cells anemia . Another feature of this disorder may be very low blood levels of carnitine a natural substance that helps convert certain foods into energy . Isobutyryl CoA dehydrogenase deficiency may be worsened by long periods without food fasting or infections that increase the body s demand for energy. Some individuals with gene mutations that can cause isobutyryl CoA dehydrogenase deficiency may never experience any signs and symptoms of the disorder. Genetics Image autorecessive.svg thumb right Isobutyryl coenzyme A dehydrogenase deficiency has an autosomal recessive pattern of inheritance. Defects in the ACAD8 gene cause isobutyryl coenzyme A dehydrogenase deficiency. The ACAD8 gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, the enzyme is responsible for processing valine, an amino acid that is part of many proteins. If a mutation in the ACAD8 gene reduces or eliminates the activity of this enzyme, the body is unable to break down valine properly. As a result, poor growth and reduced energy production ...   more details



  1. Succinic semialdehyde dehydrogenase deficiency

    Infobox disease Name Succinic semialdehyde dehydrogenase deficiency Image 4 hydroxybutanoic acid.png ... eMedicineTopic MeshID Succinic semialdehyde dehydrogenase deficiency SSADHD , also known as 4 hydroxybutyric ... dehydrogenase deficiency 4 hydroxybutyric aciduria journal American Journal of Medical Genetics volume .... L. Novotny, E. J. Acosta, M. T. Jakobs, C. Gibson, K. M. title Succinic semialdehyde dehydrogenase deficiency in children and adults volume 54 Suppl 6 issue pages S73 80 journal Annals of Neurology ... thumb right Succinic semialdehyde dehydrogenase deficiency has an autosomal recessive pattern of inheritance. SSADH deficiency is inherited in an autosomal recessive fashion. Such diseases are caused ... semialdehyde dehydrogenase deficiency GABA sub B sub receptor mediated function volume 1090 issue ... 2007 title Therapeutic concepts in succinate semialdehyde dehydrogenase SSADH ALDH5a1 deficiency hydroxybutyric ... semialdehyde dehydrogenase deficiency volume 792 issue 1 pages 99 106 issn 1570 0232 journal ... acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn ...?book gene&part ssadh GeneReviews NCBI NIH UW entry on Succinic Semialdehyde Dehydrogenase Deficiency ... Disease volume 16 pages 704 715 last2 Jaeken first2 J. last3 Gibson first3 K. M. issue 4 ref SSADH deficiency is caused by an enzyme deficiency in GABA degradation. Under normal conditions, SSADH works ... for energy production via the Krebs cycle . However, because of the deficiency, the final intermediate ... to succinic acid and is therefore reduced to gamma hydroxybutyric acid GHB by gamma hydroxybutyric dehydrogenase ... for the neurological manifestations seen. ref name Pearl2003 Symptoms The symptoms of SSADH deficiency ... doi 10.1097 00019052 200404000 00005 ref Nearly half of the patients with SSADH deficiency have ... in mice deficient for succinate semialdehyde dehydrogenase year 2002 author Gibson, K. M. journal ... on an autosome chromosome 6 , rather than the sex linked 23rd chromosome. Being a recessive disorder ...   more details



  1. Carbamoyl phosphate synthetase I deficiency

    refimprove date December 2007 Infobox Disease Name Carbamoyl phosphate synthetase I deficiency Image Caption DiseasesDB 32671 ICD10 ICD9 ICD9 270.6 ICDO OMIM 237300 MedlinePlus eMedicineSubj ped eMedicineTopic 314 MeshID D020165 Carbamoyl phosphate synthetase I deficiency CPS I deficiency ref name omim OMIM 237300 ref is an autosome autosomal dominance genetics recessive metabolic disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Symptoms Carbamoyl phosphate synthetase I deficiency often becomes evident in the first few days of life. An infant with this condition may be lacking in energy lethargic or unwilling to eat, and have a poorly controlled breathing rate or body temperature. Some babies with this disorder may experience seizures or unusual body movements, or go into a coma. Complications of carbamoyl phosphate synthetase I deficiency may include developmental delay and mental retardation. In some affected individuals, signs and symptoms of carbamoyl phosphate synthetase I deficiency may be less severe, and may not appear until later in life. Genetics Image Autorecessive.jpg thumb right Carbamoyl phosphate synthetase I deficiency has an autosomal recessive pattern of inheritance . CPS I deficiency is inherited in an autosomal recessive manner. ref name omim This means the defective ... in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency. Carbamoyl phosphate synthetase I deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence ... phosphate synthetase I deficiency, the enzyme that regulates the urea cycle is damaged or missing ... problems and other signs and symptoms of carbamoyl phosphate synthetase I deficiency. See also Carbamoyl phosphate synthetase I References reflist External links http www.ncbi.nlm.nih.gov ...   more details



  1. Medium-chain acyl-coenzyme A dehydrogenase deficiency

    No footnotes date September 2011 Infobox disease Name Medium chain acyl coenzyme A dehydrogenase deficiency ... 1392 DiseasesDB Medium chain acyl coenzyme A dehydrogenase deficiency MCADD is a fatty acid ... long chain acyl coenzyme A dehydrogenase deficiency VLCAD deficiency Long chain 3 hydroxyacyl coenzyme A dehydrogenase deficiency LCHAD deficiency Medium chain acyl coenzyme A dehydrogenase deficiency MCAD deficiency Short chain acyl coenzyme A dehydrogenase deficiency SCAD deficiency 3 hydroxyacyl coenzyme A dehydrogenase deficiency M SCHAD deficiency Diagnosis In individuals that have reduced ... coenzyme A dehydrogenase deficiency has an Recessive gene autosomal recessive pattern of inheritance. Mutations in the ACADM ACADM gene lead to inadequate levels of the medium chain acyl coenzyme A dehydrogenase ... GeneReview NIH UW entry on Medium Chain Acyl Coenzyme A Dehydrogenase Deficiency GPnotebook 422903871 Fatty acid metabolism disorders DEFAULTSORT Medium Chain Acyl Coenzyme A Dehydrogenase Deficiency ... to defects in the enzyme complex known as medium chain acyl dehydrogenase MCAD and reduced activity of this complex. This complex oxidizes medium chain fatty acids Fatty acids having 6 12 carbons ... group , the enzyme complex is known as an acyl dehydrogenase . Different enzymes are required to hold ... causing loss of appetite or severe vomiting may need intravenous glucose to make sure that the body .... MCAD deficiency may be inferred when the levels of acylcarnitines in the blood are raised in a typical ... lengths may be used as a test to evaluate whether the cells have a deficiency in any of the various acyl dehydrogenases. This type of test may be used to support a diagnosis of MCAD deficiency when it is suspected from the pattern of acylcarnitines in the blood. The diagnosis of MCAD deficiency should ... have been diagnosed with MCAD deficiency after a child s diagnosis. See also List of fatty acid metabolism ... Acyl CoA Dehydrogenase Mangel nl Medium chain acyl co enzym A dehydrogenase defici ntie ...   more details



  1. Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

    disorders DEFAULTSORT Long Chain 3 Hydroxyacyl Coenzyme A Dehydrogenase Deficiency Category Fatty acid ...No footnotes date September 2011 Infobox disease Name Long chain 3 hydroxyacyl coenzyme A dehydrogenase deficiency ICD10 ICD9 ICD9 277.85 ICDO Image Caption OMIM 600890 MedlinePlus eMedicineSubj ped eMedicineTopic 1284 DiseasesDB Long chain 3 hydroxyacyl coenzyme A dehydrogenase deficiency , often shortened to LCHAD deficiency , is a rare autosomal recessive fatty acid oxidation disorder that prevents the body from converting certain lipid fat s into energy. This can become life threatening, particularly during periods of fasting . Image LCHAD deficiency.jpg right thumb 200px Schematic demonstrating mitochondria l fatty acid beta oxidation and effects of LCHAD deficiency Genetics Image autorecessive.svg thumb right Long chain 3 hydroxyacyl coenzyme A dehydrogenase deficiency has an autosomal recessive pattern of inheritance. Mutation s in the HADHA gene lead to inadequate levels of an enzyme called long chain 3 hydroxyacyl coenzyme A CoA dehydrogenase, which is part of a protein complex known as mitochondrial trifunctional protein . Long chain fatty acid s from food and body fat cannot be Fatty acid metabolism metabolized and processed without sufficient levels of this enzyme . As a result, these fatty acids are not converted to energy, which can lead to characteristic features of this disorder, such as lethargy and hypoglycemia . Long chain fatty acids or partially metabolized fatty acids may build up in tissues and damage the liver , heart , retina , and muscles, causing more serious complications. Symptoms Typically, initial signs and symptoms of this disorder occur during ... problems, coma , and sudden unexpected death. Episodes of LCHAD deficiency can be triggered by periods of fasting or by illnesses such as virus viral infections. See also Medium chain acyl dehydrogenase deficiency External links NLM longchain3hydroxyacylcoenzymeadehydrogenasedeficiency http www.newbornscreening.info ...   more details



  1. Short-chain acyl-coenzyme A dehydrogenase deficiency

    refimprove date August 2010 Infobox disease Name Short chain acyl coenzyme A dehydrogenase deficiency ICD10 ICD9 ICD9 277.85 ICDO Image Caption OMIM 201470 MedlinePlus eMedicineSubj eMedicineTopic DiseasesDB 31599 Short chain acyl coenzyme A dehydrogenase deficiency SCADD , also called ACADS deficiency and SCAD deficiency , ref name omim OMIM 201470 ref is an autosome autosomal dominance genetics recessive ref name scadar cite pmid 18977676 ref List of fatty acid metabolism disorders fatty acid oxidation disorder which affects enzymes required to break down a certain group of fats called short chain fatty acid s. Characteristics Some affected infants will exhibit vomiting, low blood sugar hypoglycemia ... acyl CoA dehydrogenase deficiency may be triggered by periods of fasting or during illnesses such as viral ... dehydrogenase SCAD deficiency cite web url http www.savebabies.org diseasedescriptions scadd.php title Short Chain Acyl CoA Dehydrogenase Deficiency SCAD format publisher Save Babies Through Screening ... title Acyl CoA dehydrogenase, short chain, deficiency of format publisher Orphanet accessdate cite ... FA, et al. title Short chain Acyl CoA dehydrogenase deficiency studies in a large family adding to the complexity .... Cause and Genetics Image Autorecessive.jpg thumb right Short chain acyl coenzyme A dehydrogenase deficiency has an autosomal recessive pattern of inheritance. SCADD is caused by mutation s in the ACADS ... author Tein I, Elpeleg O, Ben Zeev B, et al. title Short chain acyl CoA dehydrogenase gene mutation ... of an enzyme called short chain acyl CoA dehydrogenase, which is important for the breakdown of short ... www.ncbi.nlm.nih.gov books NBK63582 GeneReviews NCBI NIH UW entry on Short Chain Acyl CoA Dehydrogenase Deficiency NLM shortchainacylcoenzymeadehydrogenasedeficiency http www.gene.ucl.ac.uk nomenclature ...?view long&pmid 14595061 Fatty acid metabolism disorders DEFAULTSORT Short Chain Acyl Coenzyme A Dehydrogenase Deficiency Category Rare diseases Category Autosomal recessive disorders Category Fatty ...   more details



  1. Very long-chain acyl-coenzyme A dehydrogenase deficiency

    unreferenced date January 2008 Infobox disease Name Very long chain acyl coenzyme A dehydrogenase deficiency ICD10 ICD9 ICD9 277.85 ICDO Image Caption OMIM 201475 MedlinePlus eMedicineSubj eMedicineTopic DiseasesDB Very long chain acyl coenzyme A dehydrogenase deficiency VLCADD is a fatty acid oxidation disorder which prevents the body from converting certain fats to energy, particularly during periods without food. Those affected by this disorder have inadequate levels of an enzyme that breaks down a group of fats called very long chain fatty acids. Diagnosis Typically, initial signs and symptoms of this disorder occur during infancy and include low blood sugar hypoglycemia , lack of energy lethargy , and muscle weakness. There is also a high risk of complications such as liver abnormalities and life threatening heart problems. Symptoms that begin later in childhood, adolescence, or adulthood tend to be milder and usually do not involve heart problems. Episodes of very long chain acyl coenzyme A dehydrogenase deficiency can be triggered by periods of fasting, illness, and exercise. It is common for babies and children with the early and childhood types of VLCADD to have episodes of illness called metabolic crises. Some of the first symptoms of a metabolic crisis are extreme sleepiness, behavior changes, irritable mood, poor appetite. Some of these other symptoms of VLCADD in infants may also follow fever , nausea , diarrhea , vomiting , hypoglycemia . Treatment If a metabolic ... coenzyme A dehydrogenase deficiency NLM verylongchainacylcoenzymeadehydrogenasedeficiency http www.newbornscreening.info ... A Dehydrogenase Deficiency Category Autosomal recessive disorders Category Fatty acid metabolism disorders ... leading to death. Genetics Image autorecessive.svg thumb right Very long chain acyl coenzyme A dehydrogenase deficiency has an autosomal recessive pattern of inheritance. Mutations in the ACADVL gene lead to inadequate levels of an enzyme called very long chain acyl coenzyme A CoA dehydrogenase. Without ...   more details



  1. Aldehyde dehydrogenase 6 family, member A1

    Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency. journal J ...PBB geneid 4329 Methylmalonate semialdehyde dehydrogenase acylating , mitochondrial is an enzyme that in humans is encoded by the ALDH6A1 gene . ref name pmid1527093 cite journal author Kedishvili NY, Popov KM, Rougraff PM, Zhao Y, Crabb DW, Harris RA title CoA dependent methylmalonate semialdehyde dehydrogenase, a unique member of the aldehyde dehydrogenase superfamily. cDNA cloning, evolutionary relationships, and tissue distribution journal J Biol Chem volume 267 issue 27 pages 19724 9 year 1992 month Oct pmid 1527093 pmc doi ref ref name entrez cite web title Entrez Gene ALDH6A1 aldehyde dehydrogenase 6 family, member A1 url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 4329 accessdate ref The PBB Summary template is automatically maintained by Protein Box Bot. See Template PBB Controls to Stop updates. PBB Summary section title summary text This protein belongs to the aldehyde dehydrogenases family of proteins. This enzyme plays a role in the valine and pyrimidine catabolic pathways. The product of this gene, a mitochondrial methylmalonate semialdehyde dehydrogenase, catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl and propionyl CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta alanine, 3 hydroxypropionic acid, and both isomers of 3 amino and 3 hydroxyisobutyric acids in urine organic acids. ref name entrez cite web title Entrez Gene ALDH6A1 aldehyde dehydrogenase 6 family, member A1 url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 4329 accessdate ref References reflist Further reading refbegin 2 PBB Further reading citations cite journal author Kuiper H, Sp tter A, Williams JL, et al. title Physical mapping of CHX10, ALDH6A1, and ABCD4 on bovine chromosome 10q34. journal Cytogenet. Genome Res. volume ...   more details



  1. Glucose

    D small Glucose 6 phosphate reaction direction forward reversible reverse forward minor foward substrate ... of the cell. The phosphorylation adds a charged phosphate group so the glucose 6 phosphate cannot easily ... icsc icsc eics0865.htm ICSC 0865 EUIndex not listed This article is about D glucose or dextrose, as noted in the hatnote at the top. The article is NOT about the term Glucose or its denotations. Keep the intro simple. Glucose IPAc en l u k o s or IPAc en k o z C sub 6 sub H sub 12 sub O sub 6 sub , also known as small D small glucose , dextrose , or grape sugar is a simple sugar monosaccharide ... 6 phosphate wpmp.png KEGG compound C00031 KEGG enzyme 2.7.1.1 KEGG compound C00668 KEGG reaction R01786 ... glucose based biofuel Beriberi , a vitamin deficiency affecting ability to convert carbohydrate ...about the naturally occurring small D small form of glucose the small L small form L Glucose Chembox Verifiedfields changed verifiedrevid 464190891 Name small D small glucose ImageFile1 Glucose chain structure.svg ImageSize1 180 ImageCaption1 ImageFile2 D glucose chain 3D balls.png ImageSize2 180 ImageCaption2 PIN D glucose SystematicName 2 R ,3 S ,4 R ,5 R 2,3,4,5,6 Pentahydroxyhexanal OtherNames Blood sugar br Dextrose br Corn sugar br small D small Glucose br Grape sugar Section1 Chembox Identifiers ... Glucose ChEBI Ref ebicite correct EBI ChEBI 4167 KEGG Ref keggcite changed kegg KEGG C00031 ... chemspider StdInChI 1S C12H24O12 c7 1 2 3 8 4 9 5 10 6 11 12 2 h2 11H,1H2 t2 ,3 ,4 ,5 ,6? m1 s1 InChI 1 C12H24O12 c7 1 2 3 8 4 9 5 10 6 11 12 2 h2 11H,1H2 t2 ,3 ,4 ,5 ,6 m1 s1 StdInChIKey Ref stdinchicite ... Beilstein 1281604 Gmelin 83256 3DMet B04623 Section2 Chembox Properties Formula C sub 6 sub H sub 12 sub O sub 6 sub MolarMass 180.16 g mol ExactMass 180.063388 MeltingPt small D small glucose 146  C br small D small glucose 150  C Density 1.54  g cm sup 3 sup Solubility 91  ... Heat capacity measurements and thermodynamic functions of crystalline D glucose at temperatures ...   more details



  1. Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency

    Infobox Disease Name Congenital adrenal hyperplasia due to 3 beta hydroxysteroid dehydrogenase deficiency Image Cortisol2.svg Caption Cortisol DiseasesDB 4 ICD10 ICD10 E 25 0 e 20 ICD9 ICD9 255.2 ICDO OMIM 201810 MedlinePlus eMedicineSubj ped eMedicineTopic 1051 MeshID D000312 3 Hydroxysteroid dehydrogenase II deficient congenital adrenal hyperplasia 3 HSD CAH is an uncommon form of congenital adrenal hyperplasia CAH resulting from a mutation in the gene for one of the key enzyme s in cortisol synthesis by the adrenal gland , 3 hydroxysteroid dehydrogenase 3 HSD type II HSD3B2 . ref name pmid12428206 cite journal author Simard J, Moisan AM, Morel Y title Congenital adrenal hyperplasia due to 3beta hydroxysteroid dehydrogenase Delta 5 Delta 4 isomerase deficiency journal Semin. Reprod. Med. volume 20 issue 3 pages 255 76 year 2002 month August pmid 12428206 doi 10.1055 s 2002 35373 ref ref Congenital Adrenal Hyperplasia , P Stewart, Chapter 14, Section IV, Williams Textbook of Endocrinology, 11th edition, Elsevier, 2008, p. 485 494. ref As a result, higher levels of 17OH pregnenolone appear in the blood with ACTH challenge, which stimulates adrenal corticosteroid synthesis. There is a wide spectrum of clinical presentations of 3 HSD CAH, from mild to severe forms. The uncommon severe .... Pathophysiology 3 HSD II mediates three parallel dehydrogenase isomerase reactions in the adrenals ... route of testosterone synthesis from androstenediol in the testes. 3 HSD deficiency results in large ... aspect of severe 3 HSD CAH is similar to those of 21 hydroxylase deficiency. Like other enzymes ... deficiency can result in life threatening salt wasting in early infancy. Salt wasting is managed acutely ... female genitalia are the same as for moderate 21 hydroxylase deficiency but surgery is rarely considered ... little testosterone is produced in the liver to offset the deficiency of testicular testosterone. The degree ... those of 21 hydroxylase deficiency replacing mineralocorticoid with fludrocortisone suppressing DHEA ...   more details



  1. Phosphate

    correct ?? ImageSizeL1 121 ImageNameL1 Stereo skeletal formula of phosphate ImageFileR1 0 phosphate 3D balls.png ImageFileR1 Ref chemboximage correct ?? ImageSizeR1 121 ImageNameR1 Aromatic ball and stick model of phosphate SystematicName Phosphate ref Cite web title Phosphates PubChem Public ... 94.953420000 g mol sup 1 sup A phosphate , an inorganic chemical , is a Salt chemistry salt of phosphoric acid . In organic chemistry , a phosphate, or organophosphate , is an ester of phosphoric ... cite web url http fipr1.state.fl.us PhosphatePrimer title Phosphate Primer ref ref name Kuntz1 ... to form pyrophosphate s. Chemical properties Image Phosphate formula.svg thumb upright The general chemical structure of an organophosphate. Image Phosphate Group.svg upright thumb This is the structural ... izes as a phosphate group with a negative charge of 2. ref cite book last Campbell first Neil A. authorlink ... Cummings year 2005 location San Francisco, California pages 65 isbn 0 8053 7171 0 ref The phosphate ... arrangement. The phosphate ion carries a negative three formal charge and is the conjugate acid conjugate base of the hydrogen phosphate ion, chem HPO 4 2 , which is the conjugate base of chem H 2 PO 4 , the dihydrogen phosphate ion, which in turn is the conjugate base of chem H 3 PO 4 , phosphoric acid . The phosphate ion is a hypervalent molecule the phosphorus atom has 10 electrons in its valence shell . A phosphate salt forms when a positively charged ion attaches to the negatively charged ... than the corresponding phosphates. The pyrophosphate s are mostly water soluble. Aqueous phosphate exists in four forms. In strongly basic conditions, the phosphate ion chem PO 4 3 predominates, whereas in weakly basic conditions, the hydrogen phosphate ion chem HPO 4 2 is prevalent. In weakly acid conditions, the dihydrogen phosphate ion chem H 2 PO 4 is most common. In strongly acidic conditions, trihydrogen phosphate chem H 3 PO 4 is the main form. gallery widths 100px heights 80px Image 3 phosphoric ...   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. Glucose 6-phosphate

    pathway Glucose 6 phosphate dehydrogenase deficiency Glycolysis Glycogenesis and glycogenolysis metabolic ...chembox verifiedrevid 464363195 ImageFileL1 Glucose 6 Phosphate.svg ImageFileR1 Beta D glucose 6 phosphate ... O O O OC O C H 1O MeSHName Glucose 6 phosphate Section2 Chembox Properties Formula C sub 6 sub H sub ... Hazards MainHazards FlashPt Autoignition Glucose 6 phosphate also known as Robison ester is glucose ... position in cellular chemistry , glucose 6 phosphate has many possible fates within the cell. It lies ... to these metabolic pathways, glucose 6 phosphate may also be converted to glycogen or starch for storage ... 6 phosphate From glucose Within a cell, glucose 6 phosphate is produced by phosphorylation of glucose ... 6 phosphatase substrate small D small Glucose product small D small Glucose 6 phosphate reaction ... Alpha D glucose 6 phosphate wpmp.png KEGG compound C00031 KEGG enzyme 2.7.1.1 KEGG compound C00668 ... diffusion out of the cell. The phosphorylation adds a charged phosphate group so the glucose 6 phosphate cannot easily cross the cell membrane . From glycogen Glucose 6 phosphate is also produced during ... reduction in erythrocytes . This will cause the G6P to be dehydrogenated by glucose 6 phosphate ... needs energy or carbon skeletons for synthesis then glucose 6 phosphate is targeted for glycolysis . Glucose 6 phosphate is first isomerized to fructose 6 phosphate by phosphoglucose isomerase . Enzymatic ... small D small Glucose 6 phosphate product small D small Fructose 6 phosphate reaction direction ... substrate s minor reverse product s substrate image Alpha D glucose 6 phosphate wpmp.png product ... C05345 KEGG reaction R00771 This reaction converts glucose 6 phosphate to fructose 6 phosphate in preparation ... the glucose 6 phosphate breakdown to provide energy for ATP production via glycolysis . Storage as glycogen ... and release into bloodstream Liver cells possess glucose 6 phosphatase , which removes the phosphate group from glucose 6 phosphate produced during glycogenolysis or gluconeogenesis . Free glucose ...   more details



  1. Dehydrogenase

    A dehydrogenase also called DHO in the literature is an enzyme that oxidise s a substrate biochemistry substrate by a reduction reaction that transfers one or more hydride s H sup sup to an electron acceptor, usually Nicotinamide adenine dinucleotide NAD sup sup NADP NADP sup sup or a Flavin group flavin coenzyme such as FAD or FMN . Examples aldehyde dehydrogenase acetaldehyde dehydrogenase alcohol dehydrogenase glutamate dehydrogenase an enzyme that can convert glutamate to Ketoglutarate and vice versa . lactate dehydrogenase pyruvate dehydrogenase a common enzyme that feeds the Citric acid cycle TCA Cycle in converting Pyruvate to Acetyl CoA glucose 6 phosphate dehydrogenase involved in the pentose phosphate pathway glyceraldehyde 3 phosphate dehydrogenase involved in glycolysis sorbitol dehydrogenase TCA cycle examples isocitrate dehydrogenase alpha ketoglutarate dehydrogenase succinate dehydrogenase malate dehydrogenase External links eMedicineDictionary Dehydrogenase Enzymes Category Oxidoreductases enzyme stub de Dehydrogenasen es Deshidrogenasa fr D shydrog nase he ja pl Dehydrogenazy pt Desidrogenase ru sl Dehidrogenaza sv Dehydrogenas zh ...   more details



  1. Glucose cycle

    insulin and glucagon as well as allosteric regulation of both hexokinase and glucose 6 phosphatase. Diseases associated with glucose cycle A deficiency in glucose 6 phosphatase that disrupts the liver ...Unreferenced stub auto yes date December 2009 Orphan date December 2009 The glucose cycle also known as the hepatic futile cycle occurs primarily in the liver and is the dynamic equilibrium between glucose and glucose 6 phosphate . This is important for maintaining a constant concentration of glucose in the blood stream . Function The glucose cycle is required for one of the liver functions the homeostasis of glucose in the blood stream. When blood glucose levels are in excess, glucose can be stored in the liver as glycogen . When glucose levels in the blood stream are low the glycogen can be catabolism catabolised and glucose may re enter the blood stream. The catabolic process occurs at the nonreducing end of glycogen. A phosphate group breaks the bond between C 1 of a glucose ring and the O that connects it to the next phosphorolysis . One glucose unit is thus split off. Glycogen with n glucose units is converted into G 1 P a PO sub 4 sub group now attaches to C1 where O used to and glycogen with n 1 glucose units by enzyme glycogen phosphorylase. G 1 P is then converted into G 6 P by enzyme phosphoglucomutase. A water molecule hydrolyses G 6 P to glucose, the enzyme is glucose 6 phosphatase. Cell specificity When glucose enters a cell it is rapidly changed to glucose 6 phosphate, by hexokinase . The glucose cycle can occur in liver cells due to a liver specific enzyme glucose 6 phosphatase , which catalyse the dephosphorylation of glucose 6 phosphate back to glucose. Glucose 6 phosphate is the product of glycogenolysis or gluconeogenesis , where the goal is to increase free glucose in the blood due body being in catabolic state. Other cells such as muscle and brain cells do not contain glucose 6 phosphatase. As a result, any glucose 6 phosphate produced in those cells ...   more details




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