AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesInformation ScienceNamed GroupsHealth CareGeographicals
PurinesPyrimidinesPurine-Pyrimidine Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsPyrimidine NucleotidesPyrimidine NucleosidesUridine PhosphorylaseUridine KinaseOrotic AcidBase SequenceUracilAmino Acid Metabolism, Inborn ErrorsUridinePentosyltransferasesPurine NucleotidesPyrimidine DimersPurine NucleosidesChromatography, High Pressure LiquidLipid Metabolism, Inborn ErrorsNeonatal ScreeningSteroid Metabolism, Inborn ErrorsCarbohydrate Metabolism, Inborn ErrorsUrea Cycle Disorders, InbornBrain Diseases, Metabolic, InbornArgininosuccinic AciduriaPurine-Nucleoside PhosphorylaseHyperammonemiaEnergy MetabolismLipid MetabolismMutationDeoxyribonuclease (Pyrimidine Dimer)PhenylketonuriasPyrimidine PhosphorylasesSmith-Lemli-Opitz SyndromeMolecular Sequence DataOxidoreductases Acting on CH-CH Group DonorsHypoxanthineHypoxanthinesUltraviolet RaysInosineInfant, NewbornRefractive ErrorsNucleosidesOrotate PhosphoribosyltransferaseHomogentisate 1,2-DioxygenaseLiverHomocystinuriaCandidiasis, Chronic MucocutaneousAdeninePyruvate Metabolism, Inborn ErrorsKineticsalpha-GalactosidaseDNAOrnithine Carbamoyltransferase Deficiency DiseaseDihydroorotaseFabry DiseasePhosphoribosyl PyrophosphateAustralian Capital TerritoryAdenylosuccinate LyaseArgininosuccinic AcidDeoxyribodipyrimidine Photo-LyaseMetabolismIsovaleryl-CoA DehydrogenaseHypophosphatasiaCytidineMethylmalonic AcidMethylmalonyl-CoA MutaseDiagnostic ErrorsBrain Diseases, MetabolicMagnetic Resonance SpectroscopyAspartate CarbamoyltransferaseHydroxocobalaminPentanoic AcidsCarnitineGuanosineOrotidine-5'-Phosphate DecarboxylaseDeoxyribonucleosidesMetal Metabolism, Inborn ErrorsNucleotidesCarbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing)GlucoseFructose Metabolism, Inborn ErrorsMetabolic Networks and PathwaysRibonucleosidesGlutaratesUracil NucleotidesDihydroorotate OxidaseThymineUridine TriphosphateMaple Syrup Urine DiseaseAmidinotransferasesMetabolic DiseasesPorphyria, ErythropoieticGlutaryl-CoA DehydrogenaseDNA RepairHyperargininemiaAmino Acid SequenceModels, BiologicalFailure to ThriveGuanine
NucleotidesWide range of inbornUric acidDisorders pediatricsBiosynthesisEnergy metabolismNucleoside phosphorylase deficiencyNucleic acidsPathwaysDegradationLipidNucleotideSalvageMitochondrialIEMsMetal metabolismDeficiencyEnzymeDefects in specificUrineVitamin BGeneticMethionineCatabolicCarbohydrateDiagnosisEnzymes involvedImmunodeficiencyDeoxyribonucleicDietaryBiochemicalBiochemistryUnlikeGlycineUreaGlucoseBasesGlutamateProteinAdultsClinical
Nucleotides10
Wide range of inborn2
  • Over recent years we have been able to distribute samples from patients with a wide range of inborn errors including amino acid, organic acid, energy metabolism, mucopolysaccharide, sphingolipid storage, purine/pyrimidine, peroxisomal and creatine synthesis disorders but now our resources are becoming stretched and it is becoming difficult to source suitable samples for use as EQA materials. (erndim.org)
  • A wide range of inborn errors of metabolism have been reported in cats and the incidence may be higher than suspected as affected kittens may simply be dismissed as fading kittens unless specialized studies are performed. (vin.com)
Uric acid2
  • Catabolism of purinespurine nucleotide degradation refers to a regulated series of reactionsby which purine ribonucleotides and deoxyribonucleotides are degradedto uric acid in humans. (web.app)
  • Disorders that involve abnormalities of nucleotide metabolism range from relatively common diseases such as hyperuricemia and gout, in which there is increased production or impaired excretion of a metabolic end product of purine metabolism (uric acid), to rare enzyme deficiencies that affect purine and pyrimidine synthesis or degradation. (tempsite.ws)
Disorders pediatrics1
Biosynthesis4
  • Nitrogen metabolism, amino acid biosynthesis and catabolism. (up.ac.za)
  • Categories of cell mutant selections purine biosynthesis, salvage pathways, and inhibitors. (web.app)
  • Diseases of pyrimidine biosynthesis are rarer, but include orotic acidurias. (tempsite.ws)
  • Advantages (C-E). The altered metabolism of cancer cells is likely to imbue them with several proliferative and survival advantages, such as enabling cancer cells to execute the biosynthesis of macromolecules (C), to avoid apoptosis (D), and to engage in local metabolite-based paracrine and autocrine signaling (E). Potential Liabilities (F and G). This altered metabolism, however, may also confer several vulnerabilities on cancer cells. (pharmaceuticalintelligence.com)
Energy metabolism2
  • Decreased SAM and SIRT1 activity induce ER stress through impaired SIRT1-deacetylation of HSF1 and hypomethylation/hyperacetylation of peroxisome proliferator-activated receptor-γ coactivator-1α (PGC1α), which deactivate nuclear receptors and lead to impaired energy metabolism and neuroplasticity. (univ-lorraine.fr)
  • Amino acids also contribute to cellular energy metabolism by providing a carbon source for entry into the citric acid cycle (tricarboxylic acid cycle), especially when a primary source of energy, such as glucose, is scarce, or when cells undergo metabolic stress. (wikipedia.org)
Nucleoside phosphorylase deficiency1
Nucleic acids1
  • Pyrimidines and purines, first isolated from hydrolysates of nucleic acids 18741900, were identified using classical methods of organic chemistry see table 11. (web.app)
Pathways7
  • Purine metabolism refers to the metabolic pathways to synthesize and break down purines that are present in many organisms. (tempsite.ws)
  • The chemical reactions of metabolism are organized into metabolic pathways, in which one chemical is transformed through a series of steps into another chemical, each step being facilitated by a specific enzyme. (wikipedia.org)
  • A striking feature of metabolism is the similarity of the basic metabolic pathways among vastly different species. (wikipedia.org)
  • Cellular metabolism consists of numerous interconnected pathways that are catalyzed by enzymes in a series of stepwise biochemical reactions. (newworldencyclopedia.org)
  • In 1908, physician Sir Archibald Garrod coined the term "inborn errors of metabolism" to suggest that defects in specific biochemical pathways were due to an inadequate supply or a lack of a given enzyme. (newworldencyclopedia.org)
  • Commonly the term metabolism defines the breakdown of food and how its components (carbohydrates, fats and proteins) are transformed into energy via a sequence of chemical reactions (metabolic pathways) which are controlled by large numbers of different enzymes. (oncohemakey.com)
  • Although our emphasis on the Warburg effect reflects the focus of the field, we would also like to encourage a broader approach to the study of cancer metabolism that takes into account the contributions of all interconnected small molecule pathways of the cell. (pharmaceuticalintelligence.com)
Degradation1
Lipid4
  • Classify works on inborn errors of lipid metabolism disorders in QU 265.5.L5 . (nih.gov)
  • Lipid Metabolism, Inborn Errors" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (musc.edu)
  • This graph shows the total number of publications written about "Lipid Metabolism, Inborn Errors" by people in this website by year, and whether "Lipid Metabolism, Inborn Errors" was a major or minor topic of these publications. (musc.edu)
  • Below are the most recent publications written about "Lipid Metabolism, Inborn Errors" by people in Profiles. (musc.edu)
Nucleotide5
  • Therapeutic agents directed against nucleotide metabolism. (up.ac.za)
  • Nevertheless, it has been shown that in nucleated cells, P5′N‐1 deficiency results in abnormal pyrimidine nucleotide metabolism (Hopkinson et al, 1990). (tempsite.ws)
  • 1) Lesch-Nyhan syndrome (pages 6-7) The Lesch-Nyhan syndrome is a sex linked defect of the Hypoxanthine, guanine, phosphoribosyl transferase (HGPRT) gene … Nucleotide Metabolism is an important issue in medical studies and therefore you can learn in this biochemistry article everything about purine & pyrimidines. (tempsite.ws)
  • Purine Nucleotide Synthesis Disorders. (tempsite.ws)
  • Genetic defects involving enzymes essential for pyrimidine nucleotide metabolism have provided new insights into the vital physiological functions of these molecules in addition to nucleic acid synthesis. (tempsite.ws)
Salvage3
  • Purines and pyrimidines may be synthesized de novo or recycled by a salvage pathway from normal catabolism. (msdmanuals.com)
  • Pyrimidine Metabolism Disorders Pyrimidines may be synthesized de novo or recycled by a salvage pathway from normal catabolism. (msdmanuals.com)
  • This gene encodes the protein PNP, one of the ubiquitous enzymes involved in the purine salvage pathway [ 31 ]. (medilib.ir)
Mitochondrial2
  • The inherited defects involving pyrimidine metabolism lead to nervous system, hematologic and mitochondrial disease. (tempsite.ws)
  • Because a decreased dependence on aerobic respiration becomes advantageous, cell metabolism is shifted toward glycolysis by the increased expression of glycolytic enzymes, glucose transporters, and inhibitors of mitochondrial metabolism. (pharmaceuticalintelligence.com)
IEMs2
  • Background Inborn errors of metabolism (IEMs) have already been anecdotally reported in the literature as presenting with top features of cerebral palsy (CP) or misdiagnosed as atypical CP. (healthcarecoremeasures.com)
  • Multiple groups have made recommendations regarding additional testing for fragile X syndrome (FXS), inborn errors of metabolism (IEMs), X-linked intellectual disability, MECP2 -related disorders, PTEN -related disorders, and/or chromosome analysis, depending on clinical findings and family history. (arupconsult.com)
Metal metabolism1
Deficiency3
  • Causes of megaloblastic anemia include vitamin B 12 or folate deficiency (as a result of decreased intake, decreased absorption, or increased demand), specific drugs, inborn errors of metabolism, myelodysplastic syndromes , and problems with DNA synthesis (eg, from chemotherapy). (arupconsult.com)
  • INTRODUCTION - Purine nucleoside phosphorylase (PNP) deficiency (MIM #613179) is a rare, autosomal recessive, inborn error of immunity (IEI) [ 1-3 ]. (medilib.ir)
  • Heightened awareness coupled with the use of next-generation sequencing for patients with suspected inborn errors of immunity (IEI) have led to increased identification of patients with PNP deficiency [ 16-22 ]. (medilib.ir)
Enzyme3
  • Disorders of Pyrimidine Metabolism Disorder Defective Enzyme Comments. (tempsite.ws)
  • Disorders in the metabolism of pyrimidine are mostly caused by enzyme defects (highlighted in pink, one disease is depicted in orange, since there appears to be no clinical difference between type 2 and 1 of orotic aciduria, therefore researchers believe that type 2 does not exist officially). (tempsite.ws)
  • Furthermore, unlike other inborn errors of metabolism, unfortunately enzyme replacement therapy and substrate inhibition are not yet (as of March 2019) available 1 . (radiopaedia.org)
Defects in specific1
  • Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates. (umassmed.edu)
Urine3
  • Uncertain role of purine depletion not confirmed variable neurological findings stereotypic movement, pmr, seizures, hypotonia facial dysmorphy in some patients saicar detection in urine by a simple test treatment unknown. (web.app)
  • Sun Q . Quantitation of Purine in Urine by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry. (viictr.org)
  • Liu N , Sun Q . Quantitation of Pyrimidine in Urine by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry. (viictr.org)
Vitamin B1
  • Drugs that induce megaloblastic anemia typically interfere with vitamin B 12 or folate absorption or metabolism. (arupconsult.com)
Genetic5
  • Biochemical genetic testing and newborn screening are essential laboratory services for the screening, detection, diagnosis, and monitoring of inborn errors of metabolism or inherited metabolic disorders. (cdc.gov)
  • Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable. (musc.edu)
  • Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. (nih.gov)
  • Although many birth defects are the result of errors in the genetic code, others are caused by environmental factors and some result from a combination of genetic and environmental factors. (vin.com)
  • Disease processes may be incited or exacerbated by a variety of external and internal influences, including trauma , infection , poisoning , loss of blood flow , autoimmunity , inherited or acquired genetic damage, or errors of development . (bionity.com)
Methionine1
  • The mechanisms at the origin of the high variability of clinical presentation of impaired MS activity are classically considered as the consequence of the disruption of the folate cycle and related synthesis of purines and pyrimidines and the decreased synthesis of endogenous methionine and SAM. (univ-lorraine.fr)
Catabolic2
  • Figure 17.1 illustrates the metabolic processes involved in the overall metabolism of carbohydrates, fats and protein including the catabolic processes to produce energy and urea (the product of the detoxification of the nitrogen moiety of amino acids) and anabolic processes to form tissue protein and energy stores, glycogen and lipids. (oncohemakey.com)
  • Cellular carbohydrate (CHO) metabolism involves both catabolic (glycolysis, glycogenolysis) and anabolic processes (glycogenesis, gluconeogenesis). (oncohemakey.com)
Carbohydrate2
Diagnosis4
  • An lcmsms assay allowing the simultaneous, sensitive and reliable diagnosis of an extended range of purine and pyrimidine disorders has been developed. (web.app)
  • HPLC analysis for the clinical-biochemical diagnosis of inborn errors of metabolism of purines and pyrimidines. (unicatt.it)
  • Approach to the Patient With a Suspected Inherited Disorder of Metabolism Most inherited disorders of metabolism (inborn errors of metabolism) are rare, and therefore their diagnosis requires a high index of suspicion. (msdmanuals.com)
  • Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway. (viictr.org)
Enzymes involved1
Immunodeficiency1
Deoxyribonucleic1
  • The purine and pyrimidine composition of some deoxyribonucleic. (web.app)
Dietary1
  • Impaired MS activity results from inadequate dietary intake or malabsorption of B12 and inborn errors of Cbl metabolism (IECM). (univ-lorraine.fr)
Biochemical1
  • Cellular metabolism, involving the synthesis and breakdown of complex organic molecules, requires harmonious coordination of the various enzymes, biochemical reactions, and so forth. (newworldencyclopedia.org)
Biochemistry1
Unlike1
  • Unlike purine synthesis, pyrimidines are synthesized as bases and latter it is added to ribose sugar, i.e., the ring is completed before being it is linked to ribose-5-phosphate. (tempsite.ws)
Glycine1
  • Amino acid metabolism has extremely extensive effects in cancer cells, including, but not limited to, (1) establishing amino acid pools as building blocks, especially the production of non-essential amino acids … An overview of the metabolism of the sulfur amino acids is depicted in Fig. The outline of glycine metabolism is depicted in Fig. Oxidation via TCA cycle to produce energy (about 10-15% of body needs). (slimwithlynne.com)
Urea2
Glucose1
Bases1
  • Here, we show that nucleic acid bases adenine, cytosine, guanine, thymine, and uracil, as well as 2,6-diaminopurine and the "core" nucleic acid bases purine and pyrimidine, are stable in sulfuric acid in the Venus cloud temperature and sulfuric acid concentration range, using UV spectroscopy and combinations of 1D and 2D 1H 13C 15N NMR spectroscopy. (bvsalud.org)
Glutamate1
Protein1
Adults1
  • The training program includes intensive interactions with children and adults with inborn errors of metabolism. (ucla.edu)
Clinical3
  • Inborn errors of purine and pyrimidine metabolism have been documented in 14 different disorders, representing a broad spectrum of clinical manifestations. (web.app)
  • Background: Clinical presentation and disease severity in disorders of purine and pyrimidine metabolism vary considerably. (tempsite.ws)
  • Clinical Significances of Pyrimidine Metabolism. (tempsite.ws)