DiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesInformation ScienceNamed GroupsHealth CareGeographicals
Multiple Acyl Coenzyme A Dehydrogenase DeficiencyGlucosephosphate Dehydrogenase DeficiencyAcyl Coenzyme AAcyl-CoA DehydrogenaseAcyl-CoA DehydrogenasesDihydropyrimidine Dehydrogenase DeficiencyLipid Metabolism, Inborn ErrorsGlucosephosphate DehydrogenaseAcyl-CoA Dehydrogenase, Long-ChainBrain Diseases, Metabolic, InbornFavismPyruvate Dehydrogenase Complex Deficiency DiseaseCoenzyme ASuccinate-Semialdehyde DehydrogenaseCoenzyme A LigasesNeonatal ScreeningSterol O-AcyltransferaseLong-Chain-3-Hydroxyacyl-CoA DehydrogenaseCoenzymesCarnitine3-Hydroxyacyl CoA DehydrogenasesAmino Acid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGlutaryl-CoA DehydrogenaseButyryl-CoA DehydrogenaseL-Lactate DehydrogenaseDihydrouracil Dehydrogenase (NADP)Mediterranean IslandsAnemia, HemolyticPalmitoyl Coenzyme AAcyltransferasesAlcohol DehydrogenaseElectron-Transferring FlavoproteinsDiacylglycerol O-AcyltransferasePurine-Pyrimidine Metabolism, Inborn ErrorsPyruvate Dehydrogenase (Lipoamide)Glyceraldehyde-3-Phosphate Dehydrogenases3-Hydroxysteroid DehydrogenasesOxidoreductasesRetinol O-Fatty-AcyltransferaseFatty AcidsKernicterusPhosphoglycerate DehydrogenaseGlutamate DehydrogenaseAldehyde DehydrogenasePrimaquineMalate DehydrogenaseMolecular Sequence DataAlcohol OxidoreductasesIsocitrate DehydrogenaseBrain Diseases, MetabolicDimethylglycine DehydrogenaseReye SyndromeKineticsMutationInfant, NewbornMethylphenazonium Methosulfate
MADDIsobutyryl-CoA dehydrMedium-chain acylMitochondrial trifunctioGlutaricCarnitine palmitoyltransferaseEnzymesACADSRiboflavinProteinDefectsCytochromeElectronDisorderOxidationGeneticLyaseLCHADMitochondriaMetabolismPalmitoyl transferaseGeneMetabolicPompeDefectUbiquinoneGenesLysosomalCongenitalChainBenzoquinoneSynthesisKetoneMyoglobinuriaDisordersOxidativeLipidMyopathyDehydrationIntake
MADD3
  • Multiple acyl-CoA dehydrogenase deficiency- (MADD-), also called glutaric aciduria type 2, associated leukodystrophy may be severe and progressive despite conventional treatment with protein- and fat-restricted diet, carnitine, riboflavin, and coenzyme Q10. (nature.com)
  • Constant or progressive proximal and axial muscle weakness associated with or without metabolic crisis, is often seen in patients with LSM such as primary carnitin deficiency (PCD) or multiple acyl-coenzyme a dehydrogenase deficiency disorder (MADD). (ac.ir)
  • Moreover, rare inborn errors of metabolism, such as glutaric acidemia type 1 or multiple acyl-coenzyme A (CoA) dehydrogenase deficiencies (MADD), in which there is a defect in the formation of riboflavin-dependent enzymes, or Brown-Vialetto-Van Laere syndrome, in which there is a defect in a riboflavin transporter. (statpearls.com)
Isobutyryl-CoA dehydr1
  • Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. (harvard.edu)
Medium-chain acyl13
Mitochondrial trifunctio2
  • On the other hand, rhabdomyolysis triggered by fasting, fever, or physical activity usually occurs in patients with disorders affecting intramitochondrial fatty acid transport and β-oxidation, such as carnitine palmitoyltransferase II deficiency (CPT2), mitochondrial trifunctional protein deficiency and very-long-chain acyl-CoA dehydrogenase deficiency (VLCAD). (ac.ir)
  • 2003). Genetic Heterogeneity of Mitochondrial Trifunctional Protein Deficiency See also MTPD2 (620300), caused by mutation in the HADHB gene, the beta subunit of the mitochondrial trifunctional protein. (nih.gov)
Glutaric1
  • The new diseases are homocystinuria, maple syrup urine disease, tyrosinemia type 1, isovaleric acidemia, glutaric aciduria type I, long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, and carnitine deficiency. (medscape.com)
Carnitine palmitoyltransferase4
  • Long-term follow-up of bezafibrate treatment in patients with the myopathic form of carnitine palmitoyltransferase 2 deficiency. (ac.ir)
  • Carnitine palmitoyltransferase deficiency is the most commonly identified metabolic cause of recurrent myoglobulinemia in adults and has been reported in more than 150 patients. (medscape.com)
  • Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. (beds.ac.uk)
  • Here, we show that deficiency of NOX4 resulted in reduced expression of carnitine palmitoyltransferase 1A (CPT1A), which is a key mitochondrial enzyme in the fatty acid oxidation (FAO) pathway. (docksci.com)
Enzymes7
  • Short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) is an autosomal recessive fatty acid oxidation disorder which affects enzymes required to break down a certain group of fats called short chain fatty acids. (wikipedia.org)
  • The lysosomal membranes that separate those digestive enzymes from the rest of the cell contain relatively high concentrations of coenzyme Q 10 . (oregonstate.edu)
  • Coordinated and reversible reduction of enzymes involved in terminal oxidative metabolism in skeletal muscle mitochondria from a riboflavin-responsive, multiple acyl-CoA dehydrogenase deficiency patient. (harvard.edu)
  • Sets of 4 enzymes (an acyl dehydrogenase, a hydratase, a hydroxyacyl dehydrogenase, and a lyase) specific for different chain lengths (very long chain, long chain, medium chain, and short chain) are required to catabolize fatty acids completely. (msdmanuals.com)
  • In individuals with LCHAD deficiency, there is isolated deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase, while deficiency of all three enzymes occurs in individuals with TFP deficiency. (nih.gov)
  • Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. (nih.gov)
  • Then biochemical assays such as oxidative phosphorylation activity by respiratory chain enzymes were used to characterize enzyme disorders (eg, complex 1 or complex 3 deficiencies). (medlink.com)
ACADS1
Riboflavin10
  • In terms of treatment for this condition, short-chain acyl-CoA dehydrogenase deficiency, some individuals may not need treatment, while others might follow administration of: Riboflavin Dextrose Anticonvulsants This disorder, epidemiologically speaking, is thought to affect approximately 1 in 50,000 newborns according to Jethva, et al. (wikipedia.org)
  • Riboflavin is a medication used in the management and treatment of deficiency of vitamin B2. (statpearls.com)
  • This activity will highlight the mechanism of action, adverse event profile, and other vital factors, off-label uses, dosing, pharmacodynamics, pharmacokinetics, monitoring, and relevant interactions pertinent for members of the interprofessional team in the treatment of patients with riboflavin deficiency and related conditions. (statpearls.com)
  • Summarize the importance of improving care coordination amongst the interprofessional team to enhance the delivery of care for patients with riboflavin deficiency. (statpearls.com)
  • Riboflavin deficiency is rare as it is ubiquitous in a variety of food choices. (statpearls.com)
  • However, individuals following a diet scarce in milk and meat, which are one of the best sources of riboflavin, and some specific groups of individuals, as discussed below, may be prone to its deficiency. (statpearls.com)
  • the dairy intake is the most significant contributor of the vitamin in Western diets, making riboflavin deficiency uncommon among water-soluble vitamins. (statpearls.com)
  • Riboflavin deficiency among children is present in many regions of the world where there are inadequate levels of milk and meat in their diet. (statpearls.com)
  • [1] Riboflavin deficiency among children in the Western world seems to largely confine itself to adolescents, especially girls, because of increased metabolic demand. (statpearls.com)
  • C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects. (medscape.com)
Protein4
  • Medium-chain fatty acids accumulating in MCAD deficiency elicit lipid and protein oxidative damage and decrease non-enzymatic antioxidant defenses in rat brain. (medscape.com)
  • Long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and trifunctional protein (TFP) deficiency are caused by impairment of mitochondrial TFP. (nih.gov)
  • The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. (nih.gov)
  • Insulin signaling affects multiple downstream pathways including mitogen-activated protein kinase (MAPK), which controls growth, sterol regulatory element-binding protein 1 (SREBP-1), which stimulates the synthesis of lipid and cholesterol as well as the family of Forkhead (FOXO) transcription factors regulating metabolism and autophagy [ 9 ] [ 10 ] . (encyclopedia.pub)
Defects2
  • The diagnosis of short-chain acyl-coenzyme A dehydrogenase deficiency is based on the following: Newborn screening test Genetic testing Urine test The differential diagnosis for short-chain acyl-coenzyme A dehydrogenase deficiency is: ethylmalonic encephalopathy, mitochondrial respiratory chain defects and multiple acyl-CoA dehydrogenase deficiency. (wikipedia.org)
  • Measurement of tissue acyl-CoAs using flow-injection tandem mass spectrometry: acyl-CoA profiles in short-chain fatty acid oxidation defects. (harvard.edu)
Cytochrome5
  • Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene. (cimm.be)
  • Cytochrome-c Oxidase Deficiency" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (uams.edu)
  • This graph shows the total number of publications written about "Cytochrome-c Oxidase Deficiency" by people in UAMS Profiles by year, and whether "Cytochrome-c Oxidase Deficiency" was a major or minor topic of these publications. (uams.edu)
  • Below are the most recent publications written about "Cytochrome-c Oxidase Deficiency" by people in Profiles over the past ten years. (uams.edu)
  • The electron transport chain consists of 4 multimeric complexes (I to IV) plus 2 small electron carriers, coenzyme Q10 (or ubiquinone) and cytochrome c . (medlink.com)
Electron1
  • As part of the mitochondrial electron transport chain , coenzyme Q 10 accepts electrons from reducing equivalents generated during fatty acid and glucose metabolism and then transfers them to electron acceptors. (oregonstate.edu)
Disorder3
  • This leads to a secondary functional deficiency of a number of ETF-dependent dehydrogenases and results in a combined disorder of both fatty acid oxidation and amino acid metabolism (especially lysine, tryptophan, and branched-chain amino acids). (nature.com)
  • Additionally, the presence of an abnormal allele in some patients, such as with myoadenylate deaminase deficiency, may not result in a specific muscular disorder. (medscape.com)
  • The myopathic form of CPT II deficiency is the most common disorder of lipid metabolism affecting skeletal muscle and the most frequent cause of hereditary myoglobinuria. (beds.ac.uk)
Oxidation5
  • In addition to its role in ATP synthesis, mitochondrial coenzyme Q 10 mediates the oxidation of dihydroorotate to orotate in the de novo pyrimidine synthesis. (oregonstate.edu)
  • In its reduced form (CoQ 10 H 2 ), coenzyme Q 10 is an effective fat-soluble antioxidant that protects cell membranes and lipoproteins from oxidation . (oregonstate.edu)
  • This deficiency is the most common defect in the beta-oxidation cycle. (msdmanuals.com)
  • Long-chain acyl coenzyme A dehydrogenase (ACADL) is the first step in catalytic fatty acid oxidation and plays an important role in long-chain fatty acid oxidation including expression regulation and activity regulation. (animbiosci.org)
  • The spirals represent the spiral reactions of the beta-oxidation pathway, resulting in the liberation of acetyl-coenzyme A (CoA) and the reduction of flavoprotein. (medlink.com)
Genetic2
  • Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency. (ac.ir)
  • Mitochondrial disorders describe a broad range of disorders that have multiple genetic causes and variable symptoms and signs. (medlink.com)
Lyase2
  • 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients. (cimm.be)
  • Coupled brain and urine spectroscopy - in vivo metabolomic characterization of HMG-CoA lyase deficiency in 5 patients. (cimm.be)
LCHAD1
  • Individuals with TFP deficiency can present with a severe-to-mild phenotype, while individuals with LCHAD deficiency typically present with a severe-to-intermediate phenotype. (nih.gov)
Mitochondria1
  • Acylcarnitines are formed in the mitochondria by esterification between carnitine and acyl-CoAs. (bvsalud.org)
Metabolism3
  • ACADL is a key factor in multiple metabolism pathways, and over-expression of ACADL enhanced secretion of interleukin-6 (IL-6) and IL-10 in macrophages [ 4 ]. (animbiosci.org)
  • Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs on mitochondrial energy metabolism. (medscape.com)
  • Untangling the Spirals of Metabolic Disease: Primary Diagnoses and Secondary Effects: Implications for Treatment David A. H. Whiteman MD 1909 Archibald Garrod In his paper, Inborn Errors of Metabolism, the disease Alkaptonuria (Ochronosis: Homogentisic Acid Oxidase Deficiency) is described as being caused by a gene. (abcdocz.com)
Palmitoyl transferase1
  • carnitine palmitoyl transferase (CPT) deficiency 1/300 000, respectively), they do represent one of the more common causes of exercise-induced rhabdomyolysis, and prompt recognition by the treating physician is important. (essayempire.com)
Gene1
  • The aim of this study was to clone the mRNA sequence of the Acyl-CoA dehydrogenase long chain ( ACADL ) gene of goats and explore the effect of ACADL on the differentiation of subcutaneous fat cells on this basis. (animbiosci.org)
Metabolic2
  • To illustrate the functional consequences, we show that simulations with the curated model - unlike simulations with earlier Recon versions - correctly predict the metabolic impact of multiple-acyl-CoA-dehydrogenase deficiency as well as of systemic flavin-depletion. (wur.nl)
  • NADPH oxidase 4 (NOX4), a source of cellular superoxide anion, has multiple biological functions that may be of importance in inflammation, and in the pathogenesis of human metabolic diseases, including diabetes. (docksci.com)
Pompe1
  • Acid maltase deficiency (Pompe disease) is seen in approximately 1 in 40,000 people. (medscape.com)
Defect1
  • a deficiency or defect in this enzyme results in two forms of mucolipidoses, I-cell disease, and pseudo-Hurler polydystrophy. (theodora.com)
Ubiquinone1
  • Coenzyme Q 10 is a member of the ubiquinone family of compounds. (oregonstate.edu)
Genes1
  • Oral high-dose coenzyme Q 10 is usually effective to treat mitochondrial disorders that are caused by mutations in coenzyme Q 10 biosynthetic genes . (oregonstate.edu)
Lysosomal1
  • Research suggests that coenzyme Q 10 plays an important role in the transport of protons across lysosomal membranes to maintain the optimal pH (2, 3) . (oregonstate.edu)
Congenital1
  • For 60 years, newborn screening has tested for phenylketonuria, congenital hypothyroidism , congenital adrenal hyperplasia, sickle cell disease , cystic fibrosis and medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency. (medscape.com)
Chain7
  • medical citation needed] Short-chain acyl-coenzyme A dehydrogenase deficiency affected infants will have vomiting, low blood sugar, a lack of energy (lethargy), poor feeding, and failure to gain weight and grow. (wikipedia.org)
  • The symptoms of short-chain acyl-CoA dehydrogenase deficiency may be triggered during illnesses such as viral infections. (wikipedia.org)
  • Scholia has a topic profile for Short-chain acyl-coenzyme A dehydrogenase deficiency. (wikipedia.org)
  • Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy. (harvard.edu)
  • Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. (ac.ir)
  • Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study. (medscape.com)
  • TFP has three enzymatic activities - long-chain enoyl-CoA hydratase, long-chain 3-hydroxyacyl-CoA dehydrogenase, and long-chain 3-ketoacyl-CoA thiolase. (nih.gov)
Benzoquinone3
  • The ability of the benzoquinone head group of coenzyme Q 10 to accept and donate electrons is a critical feature to its function. (oregonstate.edu)
  • coenzyme Q6;2,3-dimethoxy-5-methyl-6-hexaprenyl-1,4 benzoquinone. (theodora.com)
  • coenzyme Q10;2,3-dimethoxy-5-methyl-6-decaprenyl-1,4-benzoquinone. (theodora.com)
Synthesis1
  • Endogenous synthesis and dietary intake provide sufficient coenzyme Q 10 to prevent deficiency in healthy people, although coenzyme Q 10 concentrations in tissues decline with age. (oregonstate.edu)
Ketone1
  • Diabetic ketoacidosis: Ketone body production is stimulated by dehydration and insulin deficiency. (medscape.com)
Myoglobinuria1
  • 1. DiMauro S, DiMauro PM. Muscle carnitine palmityltransferase deficiency and myoglobinuria. (ac.ir)
Disorders1
  • Finally, multisystem disorders such as the mitochondrial myopathies may be mislabeled as multiple sclerosis (MS), nonspecific encephalopathy, or vasculitis, and accurate diagnosis can avoid inappropriate therapeutic interventions such as b-interferon for MS or cyclophosphamide for vasculitis. (essayempire.com)
Oxidative1
  • Coenzyme Q 10 plays a central role in mitochondrial oxidative phosphorylation and the production of adenosine triphosphate ( ATP ). (oregonstate.edu)
Lipid1
  • Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran. (ac.ir)
Myopathy1
  • 2003). Some patients with MTP deficiency show a protracted progressive course associated with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy. (nih.gov)
Dehydration1
  • MCAD Deficiency A Child with Multiple Problems The Pregnancy Complicated by abdominal pain, severe nausea and vomiting, "black out spells" Emergency C-section because of maternal hemorrhage (unknown cause) A Child with Multiple Problems The Child Multiple hospital admissions for vomiting and dehydration in first year of life Nissen fundoplication at 18 months of age. (abcdocz.com)
Intake1
  • Vegetarians with access to a variety of fruit and vegetables can avoid deficiency, although intake may be lower than omnivores, and elderly vegetarians are at a higher risk. (statpearls.com)