Glucosephosphate Dehydrogenase Deficiency: A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of GLUCOSE-6-PHOSPHATE DEHYDROGENASE activity in erythrocytes, leading to hemolytic anemia.Glucose-6-Phosphate Isomerase: An aldose-ketose isomerase that catalyzes the reversible interconversion of glucose 6-phosphate and fructose 6-phosphate. In prokaryotic and eukaryotic organisms it plays an essential role in glycolytic and gluconeogenic pathways. In mammalian systems the enzyme is found in the cytoplasm and as a secreted protein. This secreted form of glucose-6-phosphate isomerase has been referred to as autocrine motility factor or neuroleukin, and acts as a cytokine which binds to the AUTOCRINE MOTILITY FACTOR RECEPTOR. Deficiency of the enzyme in humans is an autosomal recessive trait, which results in CONGENITAL NONSPHEROCYTIC HEMOLYTIC ANEMIA.Glucosephosphate DehydrogenaseMultiple Acyl Coenzyme A Dehydrogenase Deficiency: An autosomal recessive disorder of fatty acid oxidation, and branched chain amino acids (AMINO ACIDS, BRANCHED-CHAIN); LYSINE; and CHOLINE catabolism, that is due to defects in either subunit of ELECTRON TRANSFER FLAVOPROTEIN or its dehydrogenase, electron transfer flavoprotein-ubiquinone oxidoreductase (EC 1.5.5.1).Dihydropyrimidine Dehydrogenase Deficiency: An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity.Acyl-CoA Dehydrogenase: A flavoprotein oxidoreductase that has specificity for medium-chain fatty acids. It forms a complex with ELECTRON TRANSFERRING FLAVOPROTEINS and conveys reducing equivalents to UBIQUINONE.Acyl-CoA Dehydrogenases: Enzymes that catalyze the first step in the beta-oxidation of FATTY ACIDS.Lipid Metabolism, Inborn Errors: Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable.Acyl-CoA Dehydrogenase, Long-Chain: A flavoprotein oxidoreductase that has specificity for long-chain fatty acids. It forms a complex with ELECTRON-TRANSFERRING FLAVOPROTEINS and conveys reducing equivalents to UBIQUINONE.Brain Diseases, Metabolic, Inborn: Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero.Favism: Hemolytic anemia due to the ingestion of fava beans or after inhalation of pollen from the Vicia fava plant by persons with glucose-6-phosphate dehydrogenase deficient erythrocytes.Pyruvate Dehydrogenase Complex Deficiency Disease: An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE.Succinate-Semialdehyde Dehydrogenase: An enzyme that plays a role in the GLUTAMATE and butanoate metabolism pathways by catalyzing the oxidation of succinate semialdehyde to SUCCINATE using NAD+ as a coenzyme. Deficiency of this enzyme, causes 4-hydroxybutyricaciduria, a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA).Neonatal Screening: The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic.Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase: An NAD-dependent 3-hydroxyacyl CoA dehydrogenase that has specificity for acyl chains containing 8 and 10 carbons.3-Hydroxyacyl CoA Dehydrogenases: Enzymes that reversibly catalyze the oxidation of a 3-hydroxyacyl CoA to 3-ketoacyl CoA in the presence of NAD. They are key enzymes in the oxidation of fatty acids and in mitochondrial fatty acid synthesis.Carnitine: A constituent of STRIATED MUSCLE and LIVER. It is an amino acid derivative and an essential cofactor for fatty acid metabolism.Amino Acid Metabolism, Inborn Errors: Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.Glutaryl-CoA Dehydrogenase: A flavoprotein enzyme that is responsible for the catabolism of LYSINE; HYDROXYLYSINE; and TRYPTOPHAN. It catalyzes the oxidation of GLUTARYL-CoA to crotonoyl-CoA using FAD as a cofactor. Glutaric aciduria type I is an inborn error of metabolism due to the deficiency of glutaryl-CoA dehydrogenase.Butyryl-CoA Dehydrogenase: A flavoprotein oxidoreductase that has specificity for short-chain fatty acids. It forms a complex with ELECTRON-TRANSFERRING FLAVOPROTEINS and conveys reducing equivalents to UBIQUINONE.Dihydrouracil Dehydrogenase (NADP): An oxidoreductase involved in pyrimidine base degradation. It catalyzes the catabolism of THYMINE; URACIL and the chemotherapeutic drug, 5-FLUOROURACIL.L-Lactate Dehydrogenase: A tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of LACTATE and PYRUVATE. In vertebrates, genes for three different subunits (LDH-A, LDH-B and LDH-C) exist.Mediterranean Islands: Scattered islands in the Mediterranean Sea. The chief islands are the Balearic Islands (belong to Spain; Majorca and Minorca are among these), Corsica (belongs to France), Crete (belongs to Greece), CYPRUS (a republic), the Cyclades, Dodecanese and Ionian Islands (belong to Greece), MALTA (a republic), Sardinia and SICILY (belong to Italy). (From Webster's New Geographical Dictionary, 1988, p747)Anemia, Hemolytic: A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).Alcohol Dehydrogenase: A zinc-containing enzyme which oxidizes primary and secondary alcohols or hemiacetals in the presence of NAD. In alcoholic fermentation, it catalyzes the final step of reducing an aldehyde to an alcohol in the presence of NADH and hydrogen.Electron-Transferring Flavoproteins: Flavoproteins that serve as specific electron acceptors for a variety of DEHYDROGENASES. They participate in the transfer of electrons to a variety of redox acceptors that occur in the respiratory chain.Purine-Pyrimidine Metabolism, Inborn ErrorsPyruvate Dehydrogenase (Lipoamide): The E1 component of the multienzyme PYRUVATE DEHYDROGENASE COMPLEX. It is composed of 2 alpha subunits (pyruvate dehydrogenase E1 alpha subunit) and 2 beta subunits (pyruvate dehydrogenase E1 beta subunit).3-Hydroxysteroid Dehydrogenases: Catalyze the oxidation of 3-hydroxysteroids to 3-ketosteroids.Glyceraldehyde-3-Phosphate Dehydrogenases: Enzymes that catalyze the dehydrogenation of GLYCERALDEHYDE 3-PHOSPHATE. Several types of glyceraldehyde-3-phosphate-dehydrogenase exist including phosphorylating and non-phosphorylating varieties and ones that transfer hydrogen to NADP and ones that transfer hydrogen to NAD.Kernicterus: A term used pathologically to describe BILIRUBIN staining of the BASAL GANGLIA; BRAIN STEM; and CEREBELLUM and clinically to describe a syndrome associated with HYPERBILIRUBINEMIA. Clinical features include athetosis, MUSCLE SPASTICITY or hypotonia, impaired vertical gaze, and DEAFNESS. Nonconjugated bilirubin enters the brain and acts as a neurotoxin, often in association with conditions that impair the BLOOD-BRAIN BARRIER (e.g., SEPSIS). This condition occurs primarily in neonates (INFANT, NEWBORN), but may rarely occur in adults. (Menkes, Textbook of Child Neurology, 5th ed, p613)Phosphoglycerate Dehydrogenase: An enzyme that catalyzes the oxidation of 3-phosphoglycerate to 3-phosphohydroxypyruvate. It takes part in the L-SERINE biosynthesis pathway.Primaquine: An aminoquinoline that is given by mouth to produce a radical cure and prevent relapse of vivax and ovale malarias following treatment with a blood schizontocide. It has also been used to prevent transmission of falciparum malaria by those returning to areas where there is a potential for re-introduction of malaria. Adverse effects include anemias and GI disturbances. (From Martindale, The Extra Pharmacopeia, 30th ed, p404)Aldehyde Dehydrogenase: An enzyme that oxidizes an aldehyde in the presence of NAD+ and water to an acid and NADH. This enzyme was formerly classified as EC 1.1.1.70.Glutamate Dehydrogenase: An enzyme that catalyzes the conversion of L-glutamate and water to 2-oxoglutarate and NH3 in the presence of NAD+. (From Enzyme Nomenclature, 1992) EC 1.4.1.2.Brain Diseases, Metabolic: Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function.Dimethylglycine Dehydrogenase: A FLAVOPROTEIN enzyme that catalyzes the oxidative demethylation of dimethylglycine to SARCOSINE and FORMALDEHYDE.Malate Dehydrogenase: An enzyme that catalyzes the conversion of (S)-malate and NAD+ to oxaloacetate and NADH. EC 1.1.1.37.Isocitrate Dehydrogenase: An enzyme of the oxidoreductase class that catalyzes the conversion of isocitrate and NAD+ to yield 2-ketoglutarate, carbon dioxide, and NADH. It occurs in cell mitochondria. The enzyme requires Mg2+, Mn2+; it is activated by ADP, citrate, and Ca2+, and inhibited by NADH, NADPH, and ATP. The reaction is the key rate-limiting step of the citric acid (tricarboxylic) cycle. (From Dorland, 27th ed) (The NADP+ enzyme is EC 1.1.1.42.) EC 1.1.1.41.Reye Syndrome: A form of encephalopathy with fatty infiltration of the LIVER, characterized by brain EDEMA and VOMITING that may rapidly progress to SEIZURES; COMA; and DEATH. It is caused by a generalized loss of mitochondrial function leading to disturbances in fatty acid and CARNITINE metabolism.Infant, Newborn: An infant during the first month after birth.Methylphenazonium Methosulfate: Used as an electron carrier in place of the flavine enzyme of Warburg in the hexosemonophosphate system and also in the preparation of SUCCINIC DEHYDROGENASE.Jaundice, Neonatal: Yellow discoloration of the SKIN; MUCOUS MEMBRANE; and SCLERA in the NEWBORN. It is a sign of NEONATAL HYPERBILIRUBINEMIA. Most cases are transient self-limiting (PHYSIOLOGICAL NEONATAL JAUNDICE) occurring in the first week of life, but some can be a sign of pathological disorders, particularly LIVER DISEASES.Alcohol Oxidoreductases: A subclass of enzymes which includes all dehydrogenases acting on primary and secondary alcohols as well as hemiacetals. They are further classified according to the acceptor which can be NAD+ or NADP+ (subclass 1.1.1), cytochrome (1.1.2), oxygen (1.1.3), quinone (1.1.5), or another acceptor (1.1.99).Gilbert Disease: A benign familial disorder, transmitted as an autosomal dominant trait. It is characterized by low-grade chronic hyperbilirubinemia with considerable daily fluctuations of the bilirubin level.Dihydrolipoamide Dehydrogenase: A flavoprotein containing oxidoreductase that catalyzes the reduction of lipoamide by NADH to yield dihydrolipoamide and NAD+. The enzyme is a component of several MULTIENZYME COMPLEXES.Glycogen Storage Disease Type I: An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.Succinate Dehydrogenase: A flavoprotein containing oxidoreductase that catalyzes the dehydrogenation of SUCCINATE to fumarate. In most eukaryotic organisms this enzyme is a component of mitochondrial electron transport complex II.Carbohydrate Dehydrogenases: Reversibly catalyze the oxidation of a hydroxyl group of carbohydrates to form a keto sugar, aldehyde or lactone. Any acceptor except molecular oxygen is permitted. Includes EC 1.1.1.; EC 1.1.2.; and 1.1.99.L-Iditol 2-Dehydrogenase: An alcohol oxidoreductase which catalyzes the oxidation of L-iditol to L-sorbose in the presence of NAD. It also acts on D-glucitol to form D-fructose. It also acts on other closely related sugar alcohols to form the corresponding sugar. EC 1.1.1.14Oxidoreductases: The class of all enzymes catalyzing oxidoreduction reactions. The substrate that is oxidized is regarded as a hydrogen donor. The systematic name is based on donor:acceptor oxidoreductase. The recommended name will be dehydrogenase, wherever this is possible; as an alternative, reductase can be used. Oxidase is only used in cases where O2 is the acceptor. (Enzyme Nomenclature, 1992, p9)Hemolysis: The destruction of ERYTHROCYTES by many different causal agents such as antibodies, bacteria, chemicals, temperature, and changes in tonicity.Hirsutism: A condition observed in WOMEN and CHILDREN when there is excess coarse body hair of an adult male distribution pattern, such as facial and chest areas. It is the result of elevated ANDROGENS from the OVARIES, the ADRENAL GLANDS, or exogenous sources. The concept does not include HYPERTRICHOSIS, which is an androgen-independent excessive hair growth.Mitochondrial Trifunctional Protein: A mitochondrial protein consisting of four alpha-subunits and four beta-subunits. It contains enoyl-CoA hydratase, long-chain-3-hydroxyacyl-CoA dehydrogenase, and acetyl-CoA C-acyltransferase activities and plays an important role in the metabolism of long chain FATTY ACIDS.Oxidoreductases Acting on CH-CH Group Donors: A subclass of enzymes which includes all dehydrogenases acting on carbon-carbon bonds. This enzyme group includes all the enzymes that introduce double bonds into substrates by direct dehydrogenation of carbon-carbon single bonds.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Glycerolphosphate DehydrogenaseHyperbilirubinemia, Neonatal: Accumulation of BILIRUBIN, a breakdown product of HEME PROTEINS, in the BLOOD during the first weeks of life. This may lead to NEONATAL JAUNDICE. The excess bilirubin may exist in the unconjugated (indirect) or the conjugated (direct) form. The condition may be self-limiting (PHYSIOLOGICAL NEONATAL JAUNDICE) or pathological with toxic levels of bilirubin.Exchange Transfusion, Whole Blood: Repetitive withdrawal of small amounts of blood and replacement with donor blood until a large proportion of the blood volume has been exchanged. Used in treatment of fetal erythroblastosis, hepatic coma, sickle cell anemia, disseminated intravascular coagulation, septicemia, burns, thrombotic thrombopenic purpura, and fulminant malaria.NAD: A coenzyme composed of ribosylnicotinamide 5'-diphosphate coupled to adenosine 5'-phosphate by pyrophosphate linkage. It is found widely in nature and is involved in numerous enzymatic reactions in which it serves as an electron carrier by being alternately oxidized (NAD+) and reduced (NADH). (Dorland, 27th ed)17-alpha-Hydroxypregnenolone: A 21-carbon steroid that is converted from PREGNENOLONE by STEROID 17-ALPHA-HYDROXYLASE. It is an intermediate in the delta-5 pathway of biosynthesis of GONADAL STEROID HORMONES and the adrenal CORTICOSTEROIDS.Hydroxysteroid Dehydrogenases: Enzymes of the oxidoreductase class that catalyze the dehydrogenation of hydroxysteroids. (From Enzyme Nomenclature, 1992) EC 1.1.-.Hyperbilirubinemia: A condition characterized by an abnormal increase of BILIRUBIN in the blood, which may result in JAUNDICE. Bilirubin, a breakdown product of HEME, is normally excreted in the BILE or further catabolized before excretion in the urine.Glucose 1-Dehydrogenase: A glucose dehydrogenase that catalyzes the oxidation of beta-D-glucose to form D-glucono-1,5-lactone, using NAD as well as NADP as a coenzyme.Oxidation-Reduction: A chemical reaction in which an electron is transferred from one molecule to another. The electron-donating molecule is the reducing agent or reductant; the electron-accepting molecule is the oxidizing agent or oxidant. Reducing and oxidizing agents function as conjugate reductant-oxidant pairs or redox pairs (Lehninger, Principles of Biochemistry, 1982, p471).Ketoglutarate Dehydrogenase ComplexAldehyde Oxidoreductases: Oxidoreductases that are specific for ALDEHYDES.Mitochondrial Diseases: Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Sickle Cell Trait: The condition of being heterozygous for hemoglobin S.Peroxisomal Multifunctional Protein-2: A dimeric protein found in liver peroxisomes that plays an important role in FATTY ACID metabolism and steroid metabolism. The dimer is formed by cleavage of a single protein precursor and contains an enoyl-CoA hydratase-2 domain and a second domain that displays (S)-3-hydroxyacyl-CoA dehydrogenase and 17-beta-estradiol dehydrogenase activities. The enzyme is stereospecific with regards to arrangement of the substrate double bonds and position of the 3-hydroxy group of the reaction intermediate. It is complemented by PEROXISOMAL BIFUNCTIONAL ENZYME, which has the opposite reaction stereospecificity.Erythrocytes: Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN.Phosphogluconate Dehydrogenase: An enzyme of the oxidoreductase class that catalyzes the reaction 6-phospho-D-gluconate and NADP+ to yield D-ribulose 5-phosphate, carbon dioxide, and NADPH. The reaction is a step in the pentose phosphate pathway of glucose metabolism. (From Dorland, 27th ed) EC 1.1.1.43.Adrenal Hyperplasia, Congenital: A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders.Glucose Dehydrogenases: D-Glucose:1-oxidoreductases. Catalyzes the oxidation of D-glucose to D-glucono-gamma-lactone and reduced acceptor. Any acceptor except molecular oxygen is permitted. Includes EC 1.1.1.47; EC 1.1.1.118; EC 1.1.1.119 and EC 1.1.99.10.Sugar Alcohol Dehydrogenases: Reversibly catalyzes the oxidation of a hydroxyl group of sugar alcohols to form a keto sugar, aldehyde or lactone. Any acceptor except molecular oxygen is permitted. Includes EC 1.1.1.; EC 1.1.2. and EC 1.1.99.JordanNADH Dehydrogenase: A flavoprotein and iron sulfur-containing oxidoreductase that catalyzes the oxidation of NADH to NAD. In eukaryotes the enzyme can be found as a component of mitochondrial electron transport complex I. Under experimental conditions the enzyme can use CYTOCHROME C GROUP as the reducing cofactor. The enzyme was formerly listed as EC 1.6.2.1.Sudden Infant Death: The abrupt and unexplained death of an apparently healthy infant under one year of age, remaining unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of the clinical history. (Pediatr Pathol 1991 Sep-Oct;11(5):677-84)Thalassemia: A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.IMP Dehydrogenase: An enzyme that catalyzes the dehydrogenation of inosine 5'-phosphate to xanthosine 5'-phosphate in the presence of NAD. EC 1.1.1.205.Muscular Diseases: Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.Lactate Dehydrogenases: Alcohol oxidoreductases with substrate specificity for LACTIC ACID.17-Hydroxysteroid Dehydrogenases: A class of enzymes that catalyzes the oxidation of 17-hydroxysteroids to 17-ketosteroids. EC 1.1.-.Liver: A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.Formate Dehydrogenases: Flavoproteins that catalyze reversibly the reduction of carbon dioxide to formate. Many compounds can act as acceptors, but the only physiologically active acceptor is NAD. The enzymes are active in the fermentation of sugars and other compounds to carbon dioxide and are the key enzymes in obtaining energy when bacteria are grown on formate as the main carbon source. They have been purified from bovine blood. EC 1.2.1.2.Xanthine Dehydrogenase: An enzyme that catalyzes the oxidation of XANTHINE in the presence of NAD+ to form URIC ACID and NADH. It acts also on a variety of other purines and aldehydes.
... glucosephosphate dehydrogenase deficiency MeSH C15.378.071.141.150.480.370 --- favism MeSH C15.378.071.141.150.490 --- ... blood coagulation disorders, inherited MeSH C15.378.100.425.037 --- activated protein c resistance MeSH C15.378.100.425.056 ... factor v deficiency MeSH C15.378.100.141.310 --- factor vii deficiency MeSH C15.378.100.141.320 --- factor x deficiency MeSH ... factor v deficiency MeSH C15.378.100.425.310 --- factor vii deficiency MeSH C15.378.100.425.320 --- factor x deficiency MeSH ...
Shalev, O; Leibowitz, G; Brok-Simoni, F (Jun 15, 1994). "[Glucose phosphate isomerase deficiency with congenital nonspherocytic ... Rosler, A (August 2006). "17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population". Pediatric ... and then by blood immune disorders and then neoplasms. The Mode of Inheritance is mainly autosomal recessive followed by ... glucose-6-phosphate dehydrogenase deficiency, and fragile X syndrome (FXS), which is an inherited genetic condition with ...
PC Pyruvate dehydrogenase deficiency; 312170; PDHA1 Pyruvate dehydrogenase E2 deficiency; 245348; DLAT Pyruvate dehydrogenase ... due to glucose phosphate isomerase deficiency; 613470; GPI Hemolytic uremic syndrome, atypical, susceptibility to, 1; 235400; ... FOXL2 Blood group--Lutheran inhibitor; 111150; KLF1 Bloom syndrome; 210900; RECQL3 Blue cone monochromacy; 303700; OPN1MW Blue- ... SCARB2 Acyl-CoA dehydrogenase, long chain, deficiency of; 201460; ACADL Acyl-CoA dehydrogenase, medium chain, deficiency of; ...
A rise in the blood glucose concentration causes them to release insulin into the blood, which has an effect particularly on ... Cofactors: Mg2+ G6P is then rearranged into fructose 6-phosphate (F6P) by glucose phosphate isomerase. Fructose can also enter ... However, some mutations are seen with one notable example being Pyruvate kinase deficiency, leading to chronic hemolytic anemia ... Glyceraldehyde-3-phosphate dehydrogenase NAD++ Pi NADH + H+ NAD++ Pi NADH + H+ 2 × 1,3-Bisphosphoglycerate 2 × Phosphoglycerate ...
The beta cells in the pancreatic islets are sensitive to the blood glucose concentration.[25] A rise in the blood glucose ... glyceraldehyde phosphate dehydrogenase (GAPDH). an oxidoreductase D-1,3-bisphosphoglycerate (1,3BPG) ... G6P is then rearranged into fructose 6-phosphate (F6P) by glucose phosphate isomerase. Fructose can also enter the glycolytic ... However, some mutations are seen with one notable example being Pyruvate kinase deficiency, leading to chronic hemolytic anemia ...
Erythrocyte glucose-6-phosphate dehydrogenase activity was absent in the patient. Intermediate enzymatic levels were ... Glucosephosphate Dehydrogenase Deficiency / blood*, genetics. Humans. Male. Chemical. Reg. No./Substance: 58-15-1/Aminopyrine; ... Erythrocyte glucose-6-phosphate dehydrogenase activity was absent in the patient. Intermediate enzymatic levels were ...
Transfusion-acquired malaria in a neonate is uncommon and factors such as drug resistance and concomitant G6PD deficiency can ... Blood Transfusion / adverse effects*. Diseases in Twins*. Glucosephosphate Dehydrogenase Deficiency / complications, therapy. ... Transfusion-acquired malaria in a neonate is uncommon and factors such as drug resistance and concomitant G6PD deficiency can ...
Glucosephosphate Dehydrogenase Deficiency * Immunization * Vaccination * Blood Transfusion * Chromosome Aberrations * Sickle ...
... some of which cause a deficiency of GLUCOSE-6-PHOSPHATE DEHYDROGENASE activity in erythrocytes, leading to hemolytic anemia. ... A disease-producing enzyme deficiency subject to many variants, ... 08/01/2004 - "Total genomic DNAs were isolated from the blood ... Deficiency, GPD; Deficiency, Glucosephosphate Dehydrogenase; G6PD Deficiency; GPD Deficiency; Glucose 6 Phosphate Dehydrogenase ... Dehydrogenase Deficiency, Glucose-6-Phosphate; Dehydrogenase Deficiency, Glucosephosphate; G6PD Deficiencies; GPD Deficiencies ...
Keywords: Blood transfusion, glucose phosphate dehydrogenase deficiency. hemolysis. Hamid Amoozegar, Mahbobeh Mirshekari, ... The incidence of glucose-6-phosphate dehydrogenase (G-6-PD) deficiency in Iran is around 10-14.9%. G-6-PD deficiency is an X- ... The blood samples were tested with fluorescent spot test for G-6-PD deficiency. G-6-PD-deficient donors were identified, and if ... Does the history before blood transfusion identify donors who are glucose-6-phosphate dehydrogenase (G-6-PD) deficient?. Hamid ...
Administering Primaquine to people with a red blood cell enzyme deficiency, known as glucose phosphate dehydrogenase (G6PD) ... deficiency, may trigger severe and potentially lethal blood loss, Dr. Adams said. "Theres no good bedside test to identify ... It is designed to support complex tissue growth, allowing liver or blood vessel cells to grow in three dimensions while ... In vivax malaria, some parasites can remain dormant in the liver for extended periods before infecting the blood.) The ...
... alpha thalassaemia frequency and G6PD deficiency on the sensitivity of one tube osmotic fragility tests for beta thalassaemia. ... Elliptocytosis, Hereditary/blood/diagnosis/genetics. *Female. *Glucosephosphate Dehydrogenase Deficiency/blood/diagnosis/ ... fig04: The combined impact of SAO, alpha thalassaemia frequency and G6PD deficiency on the sensitivity of one tube osmotic ... fig04: The combined impact of SAO, alpha thalassaemia frequency and G6PD deficiency on the sensitivity of one tube osmotic ...
Calculations can be triggered genetically e g spherocytosis coomba s test g pd glucose phosphate dehydrogenase deficiency ... where infection occurs when too much blood flow to the veins in the blood of wastes, renal failure in the. If this occurs the ... Our blood contains clotting factors should be similar to those that will allow any air bubbles with a mutant kidney table ... Blood tests are positive, your doctor will discuss this with an epidural infusion blocks not only in the abdominal fluid and ...
Glucosephosphate Dehydrogenase Deficiency Daunorubicin Precursor Cell Lymphoblastic Leukemia-Lymphoma Residual Neoplasm Safety ... an expert opinion from the European Society for Blood and Marrow Transplantation (EBMT) and the American Society for Blood and ... Functional repair assay for the diagnosis of constitutional mismatch repair deficiency from non-neoplastic tissue. Shuen, A. Y ... Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study. SCETIDE ...
... deficiency was detected in 16 ( %) of a group of 23 neonates who had unexplained moderate or severe. Of infants, ... Glucosephosphate dehydrogenase deficiency and neonatal jaundice in Jamaica.. Since the red blood cells lack the G6PD enzyme, ... This is a blood test to find out whether you have low amounts of an enzyme called glucosephosphate dehydrogenase. Experts ... Glucosephosphate dehydrogenase (G6PD) deficiency was detected in 16 ( %) of a group of 23 neonates who had unexplained moderate ...
... deficiency are genetic disorders that cause hemolytic anemia when exposed to oxidative stress. Their co-existence is, however, ... BACKGROUND Beta-hemoglobinopathies and glucose-6-phosphate dehydrogenase (G6PD) ... Glucosephosphate Dehydrogenase Deficiency / blood Actions. * Search in PubMed * Search in MeSH * Add to Search ... Glucose-6-phosphate dehydrogenase deficiency enhances Covid-19 infection in elderly people. Abdel Hafez SMN. Abdel Hafez SMN. ...
Glucosephosphate Dehydrogenase Deficiency/blood*. *Glutathione/blood*. *Hemoglobins/metabolism*. *Humans. *In Vitro Techniques ... Susceptibility of glucose-6-phosphate dehydrogenase deficient red cells to primaquine enantiomers and two putative metabolites ... and glutathione content and release of hemoglobin into plasma from glucose-6-phosphate dehydrogenase (G-6-PD) deficient red ...
... and glucose 6 phosphate dehydrogenase deficiency (Gd-): males 0.27, females 0.11. From our data the alpha+ (-alpha/) thal gene ... Gene Frequency Glucosephosphate Dehydrogenase/blood Glucosephosphate Dehydrogenase Deficiency/epidemiology/*genetics ... and glucose 6 phosphate dehydrogenase deficiency (Gd-): males 0.27, females 0.11. From our data the alpha+ (-alpha/) thal gene ... Adolescent Adult Aged Child Erythrocyte Indices Erythrocytes/chemistry Female Ferritin/analysis Fetal Blood/cytology * ...
... of scalp bruising or cephalohematoma breakdown of heme hemolysis rhesus abo g pd glucose phosphate dehydrogenase deficiency ... Your blood pressure control needs improvement prior to surgery was poor, or their downstream signaling molecules that contact ... symptoms are present and non-self cells that should be suspected in any vertebrate lateral views of whole blood or deficiency ... After months,returned to work.was bored not working and felt this was believed to be appropriately trained on arterial blood ...
... hemolytic anemia due to glucose phosphate dehydrogenase deficiency and severe thrombocytopenia), glomerulonephritis, and mixed ... Beyond the Liver, Hepatitis E Can Affect the Nerves, Pancreas, and Blood Vessels. Extrahepatic Manifestations of Hepatitis E: A ... Beyond the Liver, Hepatitis E Can Affect the Nerves, Pancreas, and Blood Vessels. Extrahepatic Manifestations of Hepatitis E: A ... Beyond the Liver, Hepatitis E Can Affect the Nerves, Pancreas, and Blood Vessels. Extrahepatic Manifestations of Hepatitis E: A ...
Glucosephosphate Dehydrogenase Deficiency * Plasmodium falciparum * Hemolysis * Combination Drug Therapy * Blood Transfusion * ... such as hemolysis requiring blood transfusion. The study highlights both the promise and the potential risk of ACT-primaquine ... such as hemolysis requiring blood transfusion. The study highlights both the promise and the potential risk of ACT-primaquine ... such as hemolysis requiring blood transfusion. The study highlights both the promise and the potential risk of ACT-primaquine ...
Hydroxychloroquine sulfate should be administered with caution in patients having glucosephosphate dehydrogenase GPD deficiency ... acid DTPAis used as a non-radioactive contrasting agent in magnetic resonance imaging MRI and has a half life in blood of about ... Hemolysis reported in individuals with glucosephosphate dehydrogenase GPD deficiency. Patients presenting with clinical ... Symptomatic vitamin deficiency is more likely if the person is rendered achlorhydric complete absence of gastric acid ...
Although inherited blood disorders are common among children in many parts of Africa, limited data are available about their ... Glucosephosphate Dehydrogenase Deficiency / epidemiology* Actions. * Search in PubMed * Search in MeSH * Add to Search ... High prevalence of hemoglobin disorders and glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Republic of Guinea (West ... Haemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency in a Scandinavian perspective. Theodorsson E, Birgens H, ...
Blood urea nitrogen ca+, mg+, p total protein, and fat. Glucose--phosphate dehydrogenase gpd deficiency causing end-stage liver ... For postexposure prophylaxis, administration of injectable vaccines are not due to pul-satile blood flow or pain. Children ... arterial blood gases, that is, the liver. The timing of resuscitation. Hemoglobinuria is treated according to severity of ...
Those infants who have glucose- -phosphate dehydrogenase deficiency, asphyxia, significant approximately nm) of at least weeks. ... Milk protein blood from unknown carrying capacity related to do not rise to the mean maximum num- acid-fast staining. Growth ... is not the purpose of blood placed on eliciting change talk pt: Yeah, i ve tried has failed. Good san- with the urinary anion ...
... glucosephosphate dehydrogenase deficiency, pyruvate kinase deficiency, autoimmune hemolytic anemia, and diagnosstico see these ... Treatment involves management of jaundice esferocitosid and even exchange blood transfusion to prevent hyperbilirubinemic ... glucosephosphate dehydrogenase deficiency, pyruvate kinase deficiency, autoimmune hemolytic hereditadia, and alpha-thalassemia ... esferocitoeis dehydrogenase deficiency, esferocitosis hereditaria kinase deficiency, autoimmune hemolytic anemia, and alpha- ...
... deficiency was detected in 16 ( %) of a group of 23 neonates who had unexplained moderate or severe. Of infants, ... This is a blood test to find out whether you have low amounts of an enzyme called glucosephosphate dehydrogenase. Experts ... This is a blood test to find out whether you have low amounts of an enzyme called glucosephosphate dehydrogenase. ... Glucosephosphate dehydrogenase (G6PD) deficiency was detected in 16 ( %) of a group of 23 neonates who had unexplained moderate ...
... glucosephosphate dehydrogenase deficiency, pyruvate kinase deficiency, autoimmune hemolytic anemia, and alpha-thalassemia see ... Blood Cells Mol Dis ; Br J Haematol ;93 2: For all other comments, please send your remarks via contact us. Servicio de ayuda ... Treatment involves management of jaundice phototherapy and escerocitosis exchange blood transfusion to prevent ...
Glucosephosphate Dehydrogenase/blood. *Glucosephosphate Dehydrogenase/genetics*. *Glucosephosphate Dehydrogenase Deficiency/ ... G6PD deficiency from lyonization after hematopoietic stem cell transplantation from female heterozygous donors.. Au WY1, Pang A ... causing biochemical G6PD deficiency in the recipient. In HSCT from asymptomatic female donors heterozygous for X-linked ... the glucose-6-phosphate dehydrogenase (G6PD) gene of 180 female donors was genotyped by PCR/allele-specific primer extension, ...
... glucosephosphate dehydrogenase deficiency, pyruvate kinase deficiency, autoimmune hemolytic anemia, and alpha-thalassemia see ... Monitoring of blood glucose and ferritin is recommended. HI estudio de un caso de Esferocitosis Familiar. ... glucosephosphate dehydrogenase deficiency, pyruvate kinase deficiency, autoimmune hemolytic anemia, and alpha-thalassemia see ... esferocitoeis dehydrogenase deficiency, esferocitosis hereditaria kinase deficiency, autoimmune hemolytic anemia, and alpha- ...
  • Dr. Adams is the principal investigator for a three-year Gates Foundation grant that brings together a worldwide network of leading investigators with the skills and resources needed to create long-term blood stage cultures of vivax malaria. (eurekalert.org)
  • Haemoglobin (Hb), ferritin, malaria, C-reactive protein (CRP) and retinol binding protein (RBP) were measured from capillary blood. (cdc.gov)
  • Consequences included natural selection for sickle-cell disease , thalassaemias , glucosephosphate dehydrogenase deficiency , Southeast Asian ovalocytosis , elliptocytosis and loss of the Gerbich antigen glycophorin C and the Duffy antigen on the erythrocytes , because such blood disorders confer a selective advantage against malaria infection balancing selection. (kinostvol.ru)
  • Other possible causes are haemolysis malaria, glucosephosphate dehydrogenase deficiency, a genetic defect in haemoglobin synthesis and nutritional deficiencies, such as vitamin A, B12, C and folic acid 3. (sydbarrett.info)
  • Blood samples were collected from villagers in three malaria endemic provinces: Champasak and Savannakhet in the south, and Phongsaly in the north. (nih.gov)
  • Professionals Review article Deutsch English Clinical practice guidelines Deutsch Clinical genetics review English Monitoring of blood glucose and ferritin is recommended. (norsu.info)
  • At present, pre-donation data are relied on for detecting diseases in Shiraz blood banks and the donors blood is not routinely screened for G-6-PD deficiency. (tjh.com.tr)
  • To investigate the prevalence of anemic deficiency, haemoglobin level was measured using the cyanmethemoglobin method 13,14after disposing of children with other diseases or other forms of anaemia. (sydbarrett.info)
  • Using filter paper-dried serum or blood can be a cost-effective and sustainable approach to surveillance of dengue and other arboviral diseases in resource-limited settings. (bvsalud.org)
  • Dr Thurman' guidebook about Rare genetic diseases another book Arabic genetic disorders layman guide Suadi Journal article about genetic diseases in Arabic countries The highest proportion of genetic disorders manifestations are: congenital malformations followed by endocrine metabolic disorders and then by Neuron disorders (such as Neuromotor disease)and then by blood immune disorders and then neoplasms. (wikipedia.org)
  • Anaemia is the last stage of iron deficiency, which is characterized by a reduction of haemoglobin levels with impairment of body functions, which are more severe according to the level of that reduction. (sydbarrett.info)
  • We compared EMA-flow cytometry from blood samples of healthy control neonates vs samples from neonates suspected of having HS on the basis of severe Coombs-negative jaundice and spherocytes on blood film. (agritourismquebec.com)
  • Bare lymphocyte syndrome high in western Arabic block Morocco, type II Limb-girdle muscular dystrophy, type 2C in Libya, Hemolytic-uremic syndrome in Saudia, Ankylosing spondylitis in Egypt &East block, Alpha-thalassemia in all countries minus Egypt Syria Iraq, Cystic Fibrosis in Iraq Saudi Yemen Libya Morocco, Familial Mediterranean Fever fmf in east block and Libya Morocco, beta Thalassemia in all countries, g6dh deficiency all countries. (wikipedia.org)
  • Are a group of the central cord in newborn infants, supportive measures maintain adequate systemic blood flow from the nasopharynx. (bac.edu)
  • Although inherited blood disorders are common among children in many parts of Africa, limited data are available about their prevalence or contribution to childhood anaemia. (cdc.gov)
  • Previous studies have reported the nutritional changes that occurred in the last three balletas and have indicated that the prevalence of anaemia assumed epidemic proportions and became the main deficiency problem in Brazil in terms of magnitude. (sydbarrett.info)
  • G-6-PD deficiency is an X-linked recessive disorder that is more prevalent in males. (tjh.com.tr)
  • More than 2 out of 3 children had at least one measured blood disorder. (cdc.gov)
  • Sprains lead to anger, frustration, anxiety, and attention-deficit/hyperactivity disorder treatment of influenza a and hepatitis c virus hcv treponema pallidum sexual contact or via blood and uric acid crystals in any form of carbohydrates, fat, and lack typical convulsive movements. (raseproject.org)
  • Haemolytic anaemia due to PK deficiency is an autosomal recessive disorder. (europeanmedical.info)
  • Patients presenting with clinical symptoms suggestive of hypoglycemia during treatment with hydroxychloroquine sulfate should have their blood glucose checked and treatment reviewed as necessary. (mint-body.com)
  • Fever and lying status may range from asymptomatic to fulminant liver failure, failure to visualize the source of care for more than weeks gestation a procedure in the following clinical circumstances: Be available in a single teaspoon of without nicotine, is not the purpose of blood placed on eliciting change talk pt: Yeah, i ve tried has failed. (wellchild.org)
  • 2) Blood cancers - integrated molecular, flow cytometric and cytological diagnosis of haematological malignancies and deliver of state-of-the-art therapies through our national/international disease-specific key opinion clinical leaders that provide one of the largest clinical trial protofolios in the UK. (enerca.org)
  • Individuals who inherit the most common forms of G-6-PD deficiency (G6PD A- or G6PD Mediterranean) generally have no clinical signs or symptoms when they are in a normal and healthy steady state. (oncologynurseadvisor.com)
  • You may need this test if you have some of these symptoms: A needle is used to draw blood from a vein h6pd your arm or hand. (magnetoffon.info)
  • Symptoms happen if your red blood cells are exposed to certain chemicals in food or medicine, certain bacterial or viral infections, or stress. (medlineplus.gov)
  • Symptoms associated with G-6-PD deficiency only become manifest under conditions of oxidative stress. (oncologynurseadvisor.com)
  • Among its other ents in doubt should seek the advice of more management concrete, objective criteria, diagnosis necessarily en- treatment approach therapy has resulting from surgical repair in infancy. (wellchild.org)
  • The rarer form, type II b5R deficiency, has deficient enzyme activity in all cells and results in multiple organ defects, cyanosis, and typically death in infancy. (clinicaladvisor.com)
  • Each blood sample was semi-quantitatively assayed for G6PD enzyme activity using the G6PD Assay Kit-WST Lyophilized (DOJINDO Laboratories, Japan). (nih.gov)
  • Symptomatic vitamin deficiency is more likely if the person is rendered achlorhydric complete absence of gastric acid secretionwhich occurs more frequently with proton pump inhibitors than H2 blockers. (mint-body.com)
  • Deep voice due to magnesium deficiency, vitamin d vitamin d. (bac.edu)
  • A rel-atively gentler type of surgical resection persistently elevated levels of asthma control that is indicated when tube decompression fails to increase the tension-time index, they result from poor vitamin b deficiency. (bac.edu)