lactic acid has been researched along with Amino Acid Metabolism Disorders, Inborn in 25 studies
Lactic Acid: A normal intermediate in the fermentation (oxidation, metabolism) of sugar. The concentrated form is used internally to prevent gastrointestinal fermentation. (From Stedman, 26th ed)
2-hydroxypropanoic acid : A 2-hydroxy monocarboxylic acid that is propanoic acid in which one of the alpha-hydrogens is replaced by a hydroxy group.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially severe disorders including propionic acidemia (PA), methylmalonic acidemias and combined remethylation disorders (MMACBL)." | 7.85 | Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders. ( Baráth, Á; Baumgartner, MR; Fingerhut, R; Gramer, G; Hoffmann, GF; Klinke, G; Kölker, S; Monostori, P; Okun, JG; Richter, S, 2017) |
| "Hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome is caused by mutations in the SLC25A15 (ORNT1) gene encoding the mitochondrial ornithine transporter, but the mechanism of pathogenesis of the encephalopathy, spastic paraparesis and hepatopathy remains undetermined." | 7.72 | Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family. ( Abu-Libdeh, B; Gutman, A; Kanazawa, N; Korman, SH; Tsujino, S, 2004) |
| "Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially severe disorders including propionic acidemia (PA), methylmalonic acidemias and combined remethylation disorders (MMACBL)." | 3.85 | Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders. ( Baráth, Á; Baumgartner, MR; Fingerhut, R; Gramer, G; Hoffmann, GF; Klinke, G; Kölker, S; Monostori, P; Okun, JG; Richter, S, 2017) |
| "Hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome is caused by mutations in the SLC25A15 (ORNT1) gene encoding the mitochondrial ornithine transporter, but the mechanism of pathogenesis of the encephalopathy, spastic paraparesis and hepatopathy remains undetermined." | 3.72 | Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family. ( Abu-Libdeh, B; Gutman, A; Kanazawa, N; Korman, SH; Tsujino, S, 2004) |
| " The spectra and retention times of abnormal peaks found on chromatography of urine from patients with methylmalonic aciduria, maple syrup urine disease, and lactic aciduria were recorded and compared with those obtained for group of pure organic acids." | 3.67 | Use of a diode array detector in investigation of neonatal organic aciduria. ( Allen, KR; Khan, R; Watson, D, 1985) |
| "It has been suggested that the hyperphenylalaninaemia in patients with PKU reduces complex I (NADH:ubiquinone reductase) activity of the mitochondrial respiratory chain (MRC) and/or biosynthesis of coenzyme Q(10) (CoQ(10)), which acts as an electron carrier in the MRC, leading to impaired energy metabolism in the brain of patients with PKU and hence the neurological pathology." | 1.35 | Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia. ( Hargreaves, I; Kyprianou, N; Lee, P; Murphy, E, 2009) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 11 (44.00) | 18.7374 |
| 1990's | 4 (16.00) | 18.2507 |
| 2000's | 3 (12.00) | 29.6817 |
| 2010's | 6 (24.00) | 24.3611 |
| 2020's | 1 (4.00) | 2.80 |
| Authors | Studies |
|---|---|
| Martinelli, D | 1 |
| Catesini, G | 1 |
| Greco, B | 1 |
| Guarnera, A | 1 |
| Parrillo, C | 1 |
| Maines, E | 1 |
| Longo, D | 1 |
| Napolitano, A | 1 |
| De Nictolis, F | 1 |
| Cairoli, S | 1 |
| Liccardo, D | 1 |
| Caviglia, S | 1 |
| Sidorina, A | 1 |
| Olivieri, G | 1 |
| Siri, B | 1 |
| Bianchi, R | 1 |
| Spagnoletti, G | 1 |
| Dello Strologo, L | 1 |
| Spada, M | 1 |
| Dionisi-Vici, C | 1 |
| Monostori, P | 1 |
| Klinke, G | 1 |
| Richter, S | 1 |
| Baráth, Á | 1 |
| Fingerhut, R | 1 |
| Baumgartner, MR | 1 |
| Kölker, S | 1 |
| Hoffmann, GF | 1 |
| Gramer, G | 1 |
| Okun, JG | 1 |
| Majid, H | 1 |
| Jafri, L | 1 |
| Khan, AH | 1 |
| Ali, ZZ | 1 |
| Jamil, A | 1 |
| Yusufzai, N | 1 |
| Fatimah, M | 1 |
| Afroze, B | 1 |
| Nizon, M | 1 |
| Ottolenghi, C | 1 |
| Valayannopoulos, V | 1 |
| Arnoux, JB | 1 |
| Barbier, V | 1 |
| Habarou, F | 1 |
| Desguerre, I | 1 |
| Boddaert, N | 1 |
| Bonnefont, JP | 1 |
| Acquaviva, C | 1 |
| Benoist, JF | 1 |
| Rabier, D | 1 |
| Touati, G | 1 |
| de Lonlay, P | 1 |
| Amaral, AU | 1 |
| Cecatto, C | 1 |
| Seminotti, B | 1 |
| Ribeiro, CA | 1 |
| Lagranha, VL | 1 |
| Pereira, CC | 1 |
| de Oliveira, FH | 1 |
| de Souza, DG | 1 |
| Goodman, S | 1 |
| Woontner, M | 1 |
| Wajner, M | 1 |
| Kyprianou, N | 1 |
| Murphy, E | 1 |
| Lee, P | 1 |
| Hargreaves, I | 1 |
| Shigematsu, Y | 1 |
| Hata, I | 1 |
| Tajima, G | 1 |
| Prada, CE | 1 |
| Al Jasmi, F | 1 |
| Kirk, EP | 1 |
| Hopp, M | 1 |
| Jones, O | 1 |
| Leslie, ND | 1 |
| Burrow, TA | 1 |
| Korman, SH | 1 |
| Kanazawa, N | 1 |
| Abu-Libdeh, B | 1 |
| Gutman, A | 1 |
| Tsujino, S | 1 |
| Fishbein, WN | 1 |
| Joosten, E | 1 |
| van Bennekom, C | 1 |
| Oerlemans, F | 1 |
| De Bruyn, C | 1 |
| Oei, T | 1 |
| Trijbels, J | 1 |
| Congdon, PJ | 1 |
| Haigh, D | 1 |
| Smith, R | 2 |
| Green, A | 2 |
| Pollitt, RJ | 2 |
| DelValle, JA | 1 |
| Merinero, B | 1 |
| Jiménez, A | 1 |
| García, MJ | 1 |
| Ugarte, M | 1 |
| Omeñaca, F | 1 |
| Neustadt, G | 1 |
| Quero, J | 1 |
| Kuhara, T | 1 |
| Shinka, T | 1 |
| Matsuo, M | 1 |
| Matsumoto, I | 1 |
| Kodama, H | 1 |
| Nose, O | 1 |
| Okada, S | 1 |
| Yabuuchi, H | 1 |
| Oizumi, J | 1 |
| Giudici, TA | 1 |
| Ng, WG | 1 |
| Shaw, KN | 1 |
| Donnell, GN | 1 |
| Bachmann, C | 1 |
| Boulat, O | 1 |
| Meyrat, BJ | 1 |
| Colombo, JP | 1 |
| Pilloud, P | 1 |
| Muranjan, MN | 1 |
| Kondurkar, P | 1 |
| Marks, HG | 1 |
| Caro, PA | 1 |
| Wang, ZY | 1 |
| Detre, JA | 1 |
| Bogdan, AR | 1 |
| Gusnard, DA | 1 |
| Zimmerman, RA | 1 |
| Wijburg, FA | 1 |
| Feller, N | 1 |
| Ruitenbeek, W | 1 |
| Trijbels, JM | 1 |
| Sengers, RC | 1 |
| Scholte, HR | 1 |
| Przyrembel, H | 1 |
| Wanders, RJ | 1 |
| Thompson, GN | 1 |
| Chalmers, RA | 2 |
| Iles, RA | 1 |
| Hind, AJ | 1 |
| Allen, KR | 1 |
| Khan, R | 1 |
| Watson, D | 1 |
| Kolodny, EH | 1 |
| Yatziv, S | 1 |
25 other studies available for lactic acid and Amino Acid Metabolism Disorders, Inborn
| Article | Year |
|---|---|
Neurologic outcome following liver transplantation for methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Humans; Lactic Acid; Liver Transplantation; Methyl | 2023 |
Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders.
Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Liquid; Citrates; Dried Blood Spot Testing; Fe | 2017 |
Diagnostic dilemma of patients with methylmalonic aciduria: Experience from a tertiary care centre in Pakistan.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Citrates; Cross-Sectional Studies; | 2018 |
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Female; Humans; La | 2013 |
Experimental evidence that bioenergetics disruption is not mainly involved in the brain injury of glutaryl-CoA dehydrogenase deficient mice submitted to lysine overload.
Topics: Amino Acid Metabolism, Inborn Errors; Animals; Brain Diseases; Brain Diseases, Metabolic; Cerebral C | 2015 |
Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Cell Line, Tumor; Cells, Cultured; Culture Media; Elect | 2009 |
Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Blood Specimen Collection; Carnitine; Case-Control | 2010 |
Cardiac disease in methylmalonic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Aortic Valve Stenosis; Cardiomegaly; Cardiomyopathy, Dilated; | 2011 |
Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family.
Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; Arab | 2004 |
Human myoadenylate deaminase deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; AMP Deaminase; Female; Humans; Lactates; Lactic Acid; | 1984 |
Myoadenylate deaminase deficiency: an enzyme defect in search of a disease.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; AMP Deaminase; Biopsy; Female; Humans; Hypoxan | 1984 |
Hypermethioninaemia and 3-hydroxyisobutyric aciduria in an apparently healthy baby.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Aminoisobutyric Acids; Humans; Hydroxybutyrates; Infa | 1981 |
Dietary treatment and biochemical studies on a neonatal case of propionyl-CoA carboxylase deficiency.
Topics: 3-Hydroxybutyric Acid; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carboxy-Lyases; Citrates; | 1982 |
Increased excretion of lactate, glutarate, 3-hydroxyisovalerate and 3-methylglutaconate during clinical episodes of propionic acidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Carboxy-Lyases; Female; Gas Chromatography-Mass Spectrometry; | 1982 |
The study of organic acids metabolism in a patient with ornithine transcarbamylase (OTC) deficiency.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Child; Citrates; Citric Acid; Female; Humans; Ketoglu | 1982 |
Propionate metabolism by cultured skin fibroblasts from normal individuals and patients with methylmalonicaciduria and propionicacidemia.
Topics: Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Fatty Acids, Nonesterified; Fibroblasts; Huma | 1981 |
Pitfalls in aminoacid and organic acid analysis: 3-hydroxypropionic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Humans; Infant, Newborn; Lactates; La | 1994 |
Clinical features of organic acidemias: experience at a tertiary care center in Mumbai.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Amino Acids, Dicarboxylic; Develo | 2001 |
Use of computed tomography, magnetic resonance imaging, and localized 1H magnetic resonance spectroscopy in Canavan's disease: a case report.
Topics: Amidohydrolases; Amino Acid Metabolism, Inborn Errors; Aspartic Acid; Brain Diseases, Metabolic; Chi | 1991 |
Detection of respiratory chain dysfunction by measuring lactate and pyruvate production in cultured fibroblasts.
Topics: Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Child, Preschool; Cytochrome-c Oxidase Defici | 1990 |
Increased urinary metabolite excretion during fasting in disorders of propionate metabolism.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Citrates; Fasting; Fatty Acids | 1990 |
Methylmalonic aciduria and propionic acidaemia studied by proton nuclear magnetic resonance spectroscopy.
Topics: Amino Acid Metabolism, Inborn Errors; Betaine; Creatine; Female; Gas Chromatography-Mass Spectrometr | 1986 |
Excessive excretion of beta-alanine and of 3-hydroxypropionic, R- and S-3-aminoisobutyric, R- and S-3-hydroxyisobutyric and S-2-(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes.
Topics: Alanine; Aldehyde Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Aminoisobutyric Acids; beta | 1985 |
Use of a diode array detector in investigation of neonatal organic aciduria.
Topics: Amino Acid Metabolism, Inborn Errors; Carboxylic Acids; Chromatography, Ion Exchange; Electrochemist | 1985 |
Laboratory approaches for inherited neurometabolic diseases.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Galactosemias; Homocystinuria; Humans; Lactates; Lact | 1985 |