pyruvic acid has been researched along with Inborn Errors of Metabolism in 17 studies
Pyruvic Acid: An intermediate compound in the metabolism of carbohydrates, proteins, and fats. In thiamine deficiency, its oxidation is retarded and it accumulates in the tissues, especially in nervous structures. (From Stedman, 26th ed)
pyruvic acid : A 2-oxo monocarboxylic acid that is the 2-keto derivative of propionic acid. It is a metabolite obtained during glycolysis.
| Excerpt | Relevance | Reference |
|---|---|---|
| " Patients with mitochondrial encephalopathy with lactic acidosis and stroke-like episodes demonstrated only minor changes in redox state and in the behavior of the mitochondrial respiratory chain." | 3.68 | The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia. ( Capaldi, R; Chow, W; Glerum, DM; Lightowlers, R; Petrova-Benedict, R; Robinson, BH, 1990) |
| "Here, we report on cytochrome c oxidase deficiency in the liver but not in the skeletal muscle of a 5-month-old girl who presented hepatic failure in early infancy." | 1.29 | Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure. ( Cerrone, R; Chretien, D; Edery, P; Fabre, M; Gérard, B; Munnich, A; Rabier, D; Rambaud, C; Rötig, A; Saudubray, JM, 1994) |
| "Amniocytes with an established cytochrome c oxidase deficiency were also investigated." | 1.28 | Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucose. ( Bakkeren, JA; Feller, N; Ruitenbeek, W; Ruiter, J; Sengers, RC; Trijbels, JM; Wanders, RJ; Wijburg, FA, 1992) |
| "The presentation and clinical course of cytochrome c oxidase deficiency are highly variable and the diagnosis of cytochrome c oxidase deficiency should be considered in all patients with lactic acidosis or subacute necrotizing encephalomyelopathy." | 1.28 | Variable presentation of cytochrome c oxidase deficiency. ( Cunniff, C; Keppler, K, 1992) |
| "Isolated pyruvate carboxylase deficiency was found to present in two different forms, one with lactic acidaemia and mental retardation, the other with lactic acidaemia, hyperammonaemia citrullinaemia and hyperlysinaemia." | 1.27 | Lactic acidaemia. ( Robinson, BH; Sherwood, WG, 1984) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 6 (35.29) | 18.7374 |
| 1990's | 8 (47.06) | 18.2507 |
| 2000's | 2 (11.76) | 29.6817 |
| 2010's | 1 (5.88) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Demirkan, A | 1 |
| Henneman, P | 1 |
| Verhoeven, A | 1 |
| Dharuri, H | 1 |
| Amin, N | 1 |
| van Klinken, JB | 1 |
| Karssen, LC | 1 |
| de Vries, B | 1 |
| Meissner, A | 1 |
| Göraler, S | 1 |
| van den Maagdenberg, AM | 1 |
| Deelder, AM | 1 |
| C 't Hoen, PA | 1 |
| van Duijn, CM | 1 |
| van Dijk, KW | 1 |
| Carragher, FM | 1 |
| Bonham, JR | 1 |
| Smith, JM | 1 |
| Loeffen, J | 1 |
| Smeets, R | 1 |
| Voit, T | 1 |
| Hoffmann, G | 1 |
| Smeitink, J | 1 |
| Robinson, BH | 2 |
| Sherwood, WG | 1 |
| Krieger, IE | 1 |
| Nigro, M | 1 |
| Sarnaik, A | 1 |
| Taqi, Q | 1 |
| Edery, P | 1 |
| Gérard, B | 1 |
| Chretien, D | 2 |
| Rötig, A | 2 |
| Cerrone, R | 1 |
| Rabier, D | 1 |
| Rambaud, C | 1 |
| Fabre, M | 1 |
| Saudubray, JM | 1 |
| Munnich, A | 2 |
| Caruso, U | 1 |
| Adami, A | 1 |
| Bertini, E | 1 |
| Burlina, AB | 1 |
| Carnevale, F | 1 |
| Cerone, R | 1 |
| Dionisi-Vici, C | 1 |
| Giordano, G | 1 |
| Leuzzi, E | 1 |
| Parenti, G | 1 |
| Savasta, S | 1 |
| Uziel, G | 1 |
| Zeviani, M | 2 |
| Touati, G | 1 |
| Rigal, O | 1 |
| Lombès, A | 1 |
| Frachon, P | 1 |
| Giraud, M | 1 |
| Ogier de Baulny, H | 1 |
| Saijo, T | 1 |
| Kuroda, Y | 1 |
| Wanders, RJ | 2 |
| Wijburg, FA | 2 |
| Ruiter, J | 1 |
| Trijbels, JM | 1 |
| Ruitenbeek, W | 1 |
| Sengers, RC | 1 |
| Bakkeren, JA | 1 |
| Feller, N | 2 |
| Keppler, K | 1 |
| Cunniff, C | 1 |
| Rustin, P | 1 |
| Bonnefont, JP | 1 |
| Nuttin, C | 1 |
| Cormier, V | 1 |
| Vassault, A | 1 |
| Parvy, P | 1 |
| Bardet, J | 1 |
| Glerum, DM | 1 |
| Chow, W | 1 |
| Petrova-Benedict, R | 1 |
| Lightowlers, R | 1 |
| Capaldi, R | 1 |
| Scholte, HR | 1 |
| Przyrembel, H | 2 |
| DiMauro, S | 1 |
| Bonilla, E | 1 |
| Servidei, S | 1 |
| DeVivo, DC | 1 |
| Schon, EA | 1 |
| Kolodny, EH | 1 |
| Yatziv, S | 1 |
4 reviews available for pyruvic acid and Inborn Errors of Metabolism
| Article | Year |
|---|---|
Respiratory-chain and pyruvate metabolism defects: Italian collaborative survey on 72 patients.
Topics: Cytochrome-c Oxidase Deficiency; Electron Transport; Humans; Italy; Metabolism, Inborn Errors; Pyruv | 1996 |
[Pyruvate decarboxylase deficiency].
Topics: Biomarkers; Diagnosis, Differential; Female; Humans; Lactic Acid; Male; Metabolism, Inborn Errors; M | 1998 |
Mitochondrial myopathies.
Topics: Adenosine Triphosphatases; Biological Transport; Carnitine; Citric Acid Cycle; Cytochrome-c Oxidase | 1987 |
Therapy of mitochondrial disorders.
Topics: Carnitine; Electron Transport; Enzyme Precursors; Fatty Acids; Female; Humans; Male; Metabolism, Inb | 1987 |
13 other studies available for pyruvic acid and Inborn Errors of Metabolism
| Article | Year |
|---|---|
Insight in genome-wide association of metabolite quantitative traits by exome sequence analyses.
Topics: Exome; Female; Genetic Predisposition to Disease; Genome-Wide Association Study; Glycine; Humans; Me | 2015 |
Pitfalls in the measurement of some intermediary metabolites.
Topics: 3-Hydroxybutyric Acid; Artifacts; Biomarkers; Diagnostic Techniques and Procedures; Fatty Acids, Non | 2003 |
Fumarase deficiency presenting with periventricular cysts.
Topics: Brain; Cysts; DNA Mutational Analysis; DNA, Complementary; Electroencephalography; Fatal Outcome; Fe | 2005 |
Lactic acidaemia.
Topics: Abnormalities, Multiple; Child; Humans; Lactates; Lactic Acid; Metabolism, Inborn Errors; Pyruvate C | 1984 |
Screening of high risk infants for metabolic disease in a metropolitan hospital.
Topics: Amino Acids; Ammonia; Carboxylic Acids; Humans; Infant, Newborn; Infant, Newborn, Diseases; Lactates | 1981 |
Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure.
Topics: Cytochrome-c Oxidase Deficiency; Female; Humans; Infant; Lactates; Lactic Acid; Liver; Liver Failure | 1994 |
In vivo functional investigations of lactic acid in patients with respiratory chain disorders.
Topics: Adolescent; Adult; Age of Onset; Case-Control Studies; Child; Child, Preschool; Creatinine; Electron | 1997 |
Prenatal diagnosis of systemic disorders of the respiratory chain in cultured amniocytes and chorionic villus fibroblasts by studying the formation of lactate and pyruvate from glucose.
Topics: Amnion; Cells, Cultured; Chorionic Villi; Cytochrome-c Oxidase Deficiency; Female; Fibroblasts; Gluc | 1992 |
Variable presentation of cytochrome c oxidase deficiency.
Topics: Cytochrome-c Oxidase Deficiency; Female; Humans; Infant, Newborn; Lactates; Lactic Acid; Male; Metab | 1992 |
Clinical aspects of mitochondrial disorders.
Topics: Child, Preschool; Coma; Diabetes Mellitus; DNA, Mitochondrial; Dwarfism; Female; Heart Diseases; Hum | 1992 |
The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia.
Topics: Acidosis, Lactic; Brain Diseases; Cells, Cultured; Cytochrome-c Oxidase Deficiency; Fibroblasts; Hum | 1990 |
Studies on the formation of lactate and pyruvate from glucose in cultured skin fibroblasts: implications for detection of respiratory chain defects.
Topics: Cells, Cultured; Child, Preschool; Cytochrome-c Oxidase Deficiency; Electron Transport; Electron Tra | 1989 |
Laboratory approaches for inherited neurometabolic diseases.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Galactosemias; Homocystinuria; Humans; Lactates; Lact | 1985 |