pyruvic acid has been researched along with Leigh Disease in 21 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.
Leigh Disease: A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).
| Excerpt | Relevance | Reference |
|---|---|---|
| "Two cases with the diagnosis of Leigh syndrome was clear." | 1.42 | [Clinical characteristics and genetic analysis of two cases with Leigh syndrome with acute pulmonary hemorrhage as predominant manifestation]. ( Danqun, J; Jie, D; Kefei, H; Wenjia, T, 2015) |
| "The major cause of PDHc deficiency is a defect in the E1alpha component." | 1.33 | A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene. ( Darin, N; De Meirleir, L; Eriksson, JE; Holmberg, E; Holme, E; Lissens, W; Tulinius, M; Wiklund, LM, 2005) |
| "Leigh's disease is a mitochondrial disease of infancy and early childhood, and is rare in adults." | 1.32 | An adult case of Leigh disease. ( Brinar, V; Djakovic, V; Malojcic, B; Poser, C, 2004) |
| "To elucidate the etiology of Leigh syndrome, biochemical analyses and mitochondrial DNA analyses were performed on cultured lymphoblastoid cells from 20 patients with the clinical characteristics of this disorder." | 1.29 | [Defects of pyruvate metabolism in cultured lymphoblastoid cells of 20 patients with Leigh syndrome]. ( Ito, M; Kimura, S; Kuroda, Y; Matsuda, J; Naito, E; Osaka, H; Saijo, T; Yokota, I, 1996) |
| "Two new patients with Leigh's syndrome (subacute necrotizing encephalomyelopathy) due to deficiency of cytochrome c oxidase are presented and their data are compared with those of the four Leigh's syndrome patients previously reported with this deficiency." | 1.27 | Cytochrome c oxidase deficiency in subacute necrotizing encephalomyelopathy. ( Arts, WF; Fernandes, J; Loonen, MC; Luyt-Houwen, IE; Przyrembel, H; Scholte, HR; Trijbels, JM, 1987) |
| "Leigh's disease is a subacute metabolic encephalopathy characterized by bilateral and symmetrical lesions of basal ganglia, mid-brain and pons." | 1.27 | [Subacute necrotizing encephalopathy, Leigh's disease. Apropos of a case]. ( Bouissou, H; Delisle, MB; Netter, JC; Peyrille, F, 1985) |
| "We studied a 17-year-old girl with subacute necrotizing encephalomyelopathy (Leigh syndrome)." | 1.27 | Subacute necrotizing encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2-oxoglutarate in muscle and liver. ( Den Hartog, MR; Fischer, JC; Gabreëls, FJ; Janssen, AJ; Renier, WO; Ruitenbeek, W; Slooff, JL; Trijbels, JM; Van Erven, PM, 1985) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 8 (38.10) | 18.7374 |
| 1990's | 2 (9.52) | 18.2507 |
| 2000's | 5 (23.81) | 29.6817 |
| 2010's | 6 (28.57) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Iannetti, EF | 1 |
| Smeitink, JAM | 1 |
| Willems, PHGM | 1 |
| Beyrath, J | 1 |
| Koopman, WJH | 1 |
| Ching, CK | 1 |
| Mak, CM | 1 |
| Au, KM | 1 |
| Chan, KY | 1 |
| Yuen, YP | 1 |
| Yau, EK | 1 |
| Ma, LC | 1 |
| Chow, HL | 1 |
| Chan, AY | 1 |
| Danqun, J | 1 |
| Jie, D | 1 |
| Wenjia, T | 1 |
| Kefei, H | 1 |
| Kayser, EB | 1 |
| Sedensky, MM | 1 |
| Morgan, PG | 1 |
| Koga, Y | 1 |
| Povalko, N | 1 |
| Katayama, K | 1 |
| Kakimoto, N | 1 |
| Matsuishi, T | 1 |
| Naito, E | 3 |
| Tanaka, M | 1 |
| Collins, D | 1 |
| Angles, JM | 1 |
| Christodoulou, J | 1 |
| Spielman, D | 1 |
| Lindsay, SA | 1 |
| Boyd, J | 1 |
| Krockenberger, MB | 1 |
| Crimi, M | 1 |
| Papadimitriou, A | 1 |
| Galbiati, S | 1 |
| Palamidou, P | 1 |
| Fortunato, F | 1 |
| Bordoni, A | 1 |
| Papandreou, U | 1 |
| Papadimitriou, D | 1 |
| Hadjigeorgiou, GM | 1 |
| Drogari, E | 1 |
| Bresolin, N | 1 |
| Comi, GP | 1 |
| Malojcic, B | 1 |
| Brinar, V | 1 |
| Poser, C | 1 |
| Djakovic, V | 1 |
| Tulinius, M | 1 |
| Darin, N | 1 |
| Wiklund, LM | 1 |
| Holmberg, E | 1 |
| Eriksson, JE | 1 |
| Lissens, W | 1 |
| De Meirleir, L | 1 |
| Holme, E | 1 |
| Ito, M | 1 |
| Yokota, I | 1 |
| Saijo, T | 1 |
| Matsuda, J | 1 |
| Osaka, H | 1 |
| Kimura, S | 1 |
| Kuroda, Y | 1 |
| Di Rocco, M | 1 |
| Lamba, LD | 1 |
| Minniti, G | 1 |
| Caruso, U | 1 |
| Ueno, M | 1 |
| Oka, A | 1 |
| Maegaki, Y | 1 |
| Toyoshima, M | 1 |
| Fujiwaki, T | 1 |
| Takeshita, K | 1 |
| Sunohara, N | 1 |
| van Erven, PM | 4 |
| Renier, WO | 4 |
| Gabreëls, FJ | 4 |
| Thijssen, HO | 1 |
| Ruitenbeek, W | 4 |
| Horstink, MW | 1 |
| Stansbie, D | 1 |
| Wallace, SJ | 1 |
| Marsac, C | 1 |
| Arts, WF | 1 |
| Scholte, HR | 1 |
| Loonen, MC | 1 |
| Przyrembel, H | 1 |
| Fernandes, J | 1 |
| Trijbels, JM | 2 |
| Luyt-Houwen, IE | 1 |
| Ohama, E | 1 |
| Ikuta, F | 1 |
| Nakamura, N | 1 |
| Lamers, KJ | 2 |
| Sloof, JL | 1 |
| Wevers, RA | 1 |
| Doesburg, WH | 1 |
| Delisle, MB | 1 |
| Netter, JC | 1 |
| Peyrille, F | 1 |
| Bouissou, H | 1 |
| Den Hartog, MR | 1 |
| Fischer, JC | 1 |
| Slooff, JL | 1 |
| Janssen, AJ | 1 |
2 reviews available for pyruvic acid and Leigh Disease
| Article | Year |
|---|---|
Disorders of the pyruvate dehydrogenase complex.
Topics: Acetyl Coenzyme A; Acetyltransferases; Acidosis; Brain; Carbon Dioxide; Child; Child, Preschool; Coe | 1986 |
Mitochondrial abnormalities in choroid plexus of Leigh disease.
Topics: Brain Diseases, Metabolic; Child; Child, Preschool; Choroid Plexus; Female; Humans; Infant; Lactates | 1988 |
19 other studies available for pyruvic acid and Leigh Disease
| Article | Year |
|---|---|
Rescue from galactose-induced death of Leigh Syndrome patient cells by pyruvate and NAD
Topics: Adenosine Triphosphate; Aspartic Acid; Cell Death; Culture Media; Electron Transport Complex I; Fibr | 2018 |
A patient with congenital hyperlactataemia and Leigh syndrome: an uncommon mitochondrial variant.
Topics: Acidosis, Lactic; DNA, Mitochondrial; Female; Humans; Infant; Lactic Acid; Leigh Disease; Pyruvic Ac | 2013 |
[Clinical characteristics and genetic analysis of two cases with Leigh syndrome with acute pulmonary hemorrhage as predominant manifestation].
Topics: Brain; Carnitine; DNA, Mitochondrial; Female; Genetic Testing; Hemorrhage; Humans; Infant; Lactic Ac | 2015 |
Region-Specific Defects of Respiratory Capacities in the Ndufs4(KO) Mouse Brain.
Topics: Animals; Brain Stem; Cell Respiration; Cerebellum; Disease Models, Animal; Electron Transport Comple | 2016 |
Beneficial effect of pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1α gene.
Topics: Alanine; Cells, Cultured; Child, Preschool; Dichloroacetic Acid; Electroencephalography; Fibroblasts | 2012 |
Severe subacute necrotizing encephalopathy (Leigh-like syndrome) in American Staffordshire bull terrier dogs.
Topics: Animals; Brain Stem; Dog Diseases; Dogs; Lactic Acid; Leigh Disease; Pyruvic Acid | 2013 |
A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality.
Topics: Amino Acid Sequence; Animals; Brain; DNA, Mitochondrial; Electron Transport; Electron Transport Comp | 2004 |
An adult case of Leigh disease.
Topics: Adult; Brain; Cerebellum; Convalescence; Diagnosis, Differential; Electrocardiography; Electroenceph | 2004 |
A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene.
Topics: Amino Acid Substitution; Brain; Carnitine; Child, Preschool; Exons; Humans; Infant; Lactic Acid; Lei | 2005 |
[Defects of pyruvate metabolism in cultured lymphoblastoid cells of 20 patients with Leigh syndrome].
Topics: Biomarkers; Cells, Cultured; Cytochrome-c Oxidase Deficiency; DNA, Mitochondrial; Female; Humans; In | 1996 |
Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency.
Topics: Child; Diagnosis, Differential; Dose-Response Relationship, Drug; Fibroblasts; Follow-Up Studies; Hu | 2000 |
[Mitochondrial DNA T to G mutation 8993 in Leigh encephalopathy and organic aciduria].
Topics: DNA, Mitochondrial; Female; Humans; Infant; Ketoglutaric Acids; Lactic Acid; Leigh Disease; Magnetic | 2001 |
[Leigh's syndrome].
Topics: Brain Diseases, Metabolic; Cytochrome-c Oxidase Deficiency; Electron Transport; Electron Transport C | 1990 |
Hypokinesia and rigidity as clinical manifestations of mitochondrial encephalomyopathy: report of three cases.
Topics: Adolescent; Atrophy; Brain; Brain Diseases, Metabolic; Child; Child Development; Follow-Up Studies; | 1989 |
Cytochrome c oxidase deficiency in subacute necrotizing encephalomyelopathy.
Topics: Brain; Brain Diseases, Metabolic; Child; Child, Preschool; Cytochrome-c Oxidase Deficiency; Electron | 1987 |
Familial Leigh's syndrome: association with a defect in oxidative metabolism probably restricted to brain.
Topics: Adolescent; Adult; Brain; Brain Diseases, Metabolic; Female; Humans; Lactates; Leigh Disease; Malate | 1987 |
Intravenous pyruvate loading test in Leigh syndrome.
Topics: Brain Diseases, Metabolic; Cells, Cultured; Citric Acid Cycle; Fibroblasts; Humans; Leigh Disease; O | 1987 |
[Subacute necrotizing encephalopathy, Leigh's disease. Apropos of a case].
Topics: Brain; Brain Diseases, Metabolic; Child, Preschool; Humans; Leigh Disease; Male; Mitochondria, Heart | 1985 |
Subacute necrotizing encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2-oxoglutarate in muscle and liver.
Topics: Adolescent; Brain; Brain Diseases, Metabolic; Enzymes; Female; Humans; Ketoglutaric Acids; Lactates; | 1985 |