lactic acid has been researched along with Leigh Disease in 33 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.
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 |
|---|---|---|
| "An enzymatic study of cultured skin fibroblasts was made in 28 patients with lactic acidosis." | 7.67 | Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy. ( Iinuma, K; Ito, T; Miyabayashi, S; Narisawa, K; Tada, K, 1985) |
| " Other mitochondrial diseases are characterized by focal brain lesions, which is a core feature of MELAS syndrome (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes)." | 5.41 | Neuroimaging in mitochondrial disease. ( Distelmaier, F; Klopstock, T, 2023) |
| "A 6-month-old female infant with hypotonia and keto and lactic acidosis was diagnosed with lipoamide dehydrogenase (E3) deficiency." | 3.69 | Leigh disease with deficiency of lipoamide dehydrogenase: treatment failure with dichloroacetate. ( Craigen, WJ, 1996) |
| "An enzymatic study of cultured skin fibroblasts was made in 28 patients with lactic acidosis." | 3.67 | Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy. ( Iinuma, K; Ito, T; Miyabayashi, S; Narisawa, K; Tada, K, 1985) |
| "Lip cyanosis is an important initial symptom in LS." | 1.72 | Lip cyanosis as the first symptom of Leigh syndrome associated with mitochondrial complex I deficiency due to a compound heterozygous NDUFS1 mutation: A case report. ( Cao, L; Feng, J; Huang, W; Men, L; Sun, R; Xu, J; Xu, M; Zhao, X, 2022) |
| "Leigh syndrome is a mitochondrial disease caused by respiratory chain deficiency, and there are no proven effective therapies." | 1.48 | Japanese Leigh syndrome case treated with EPI-743. ( Goto, T; Iai, M; Klein, MB; Kouga, T; Miller, G; Miyauchi, A; Murayama, K; Osaka, H; Shimbo, H; Takagi, M; Yamashita, S, 2018) |
| "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) |
| "Leigh syndrome is a rare, progressive encephalomyopathy that represents a spectrum of mitochondrial genetic diseases phenotypically distinct, but with neuroradiological and pathological uniform presentation." | 1.39 | Persistent hyperlactacidaemia: about a clinical case. ( Oliveira, AR; Ramos, J; Valente, R; Ventura, L, 2013) |
| "The prognosis for Leigh syndrome was poor during long-term follow-up." | 1.35 | Leigh syndrome: clinical and neuroimaging follow-up. ( Chen, CC; Chi, CS; Lee, HF; Lee, HJ; Tsai, CR, 2009) |
| "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) |
| "In patients with acute respiratory failure under these circumstances, intravenous ketogenic emulsion therapy is worth consideration." | 1.30 | Adult leigh syndrome: treatment with intravenous soybean oil for acute central respiratory failure. ( Ichikawa, K; Kageyama, Y; Kumagai, R; Miyabayashi, S; Yasui, T, 1999) |
| "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 | 6 (18.18) | 18.7374 |
| 1990's | 5 (15.15) | 18.2507 |
| 2000's | 10 (30.30) | 29.6817 |
| 2010's | 8 (24.24) | 24.3611 |
| 2020's | 4 (12.12) | 2.80 |
| Authors | Studies |
|---|---|
| Jean, J | 1 |
| Christodoulou, E | 1 |
| Gai, X | 1 |
| Tamrazi, B | 1 |
| Vera, M | 1 |
| Mitchell, WG | 1 |
| Schmidt, RJ | 1 |
| Men, L | 1 |
| Feng, J | 1 |
| Huang, W | 1 |
| Xu, M | 1 |
| Zhao, X | 1 |
| Sun, R | 1 |
| Xu, J | 1 |
| Cao, L | 1 |
| Distelmaier, F | 1 |
| Klopstock, T | 1 |
| Galera-Monge, T | 1 |
| Zurita-Díaz, F | 1 |
| Canals, I | 1 |
| Hansen, MG | 1 |
| Rufián-Vázquez, L | 1 |
| Ehinger, JK | 1 |
| Elmér, E | 1 |
| Martin, MA | 1 |
| Garesse, R | 1 |
| Ahlenius, H | 1 |
| Gallardo, ME | 1 |
| Kouga, T | 1 |
| Takagi, M | 1 |
| Miyauchi, A | 1 |
| Shimbo, H | 1 |
| Iai, M | 1 |
| Yamashita, S | 1 |
| Murayama, K | 1 |
| Klein, MB | 1 |
| Miller, G | 1 |
| Goto, T | 1 |
| Osaka, H | 1 |
| Yu, XL | 1 |
| Yan, CZ | 1 |
| Ji, KQ | 1 |
| Lin, PF | 1 |
| Xu, XB | 1 |
| Dai, TJ | 1 |
| Li, W | 1 |
| Zhao, YY | 1 |
| Takahashi, Y | 1 |
| Kioka, H | 1 |
| Shintani, Y | 1 |
| Ohki, A | 1 |
| Takashima, S | 1 |
| Sakata, Y | 1 |
| Higuchi, T | 1 |
| Saito, S | 1 |
| Oliveira, AR | 1 |
| Valente, R | 1 |
| Ramos, J | 1 |
| Ventura, L | 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 |
| Haginoya, K | 1 |
| Miyabayashi, S | 3 |
| Kikuchi, M | 1 |
| Kojima, A | 1 |
| Yamamoto, K | 1 |
| Omura, K | 1 |
| Uematsu, M | 1 |
| Hino-Fukuyo, N | 1 |
| Tanaka, S | 1 |
| Tsuchiya, S | 1 |
| Lee, HF | 1 |
| Tsai, CR | 1 |
| Chi, CS | 1 |
| Lee, HJ | 1 |
| Chen, CC | 1 |
| Lagrue, E | 1 |
| Abert, B | 1 |
| Nadal, L | 1 |
| Tabone, L | 1 |
| Bodard, S | 1 |
| Medja, F | 1 |
| Lombes, A | 2 |
| Chalon, S | 1 |
| Castelnau, P | 1 |
| Koga, Y | 1 |
| Povalko, N | 1 |
| Katayama, K | 1 |
| Kakimoto, N | 1 |
| Matsuishi, T | 1 |
| Naito, E | 2 |
| Tanaka, M | 1 |
| Collins, D | 1 |
| Angles, JM | 1 |
| Christodoulou, J | 1 |
| Spielman, D | 1 |
| Lindsay, SA | 1 |
| Boyd, J | 1 |
| Krockenberger, MB | 1 |
| Dey, R | 1 |
| Aral, B | 1 |
| Abitbol, M | 1 |
| Marsac, C | 2 |
| 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 |
| 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 |
| Morava, E | 1 |
| Rodenburg, RJ | 1 |
| Hol, F | 1 |
| de Vries, M | 1 |
| Janssen, A | 1 |
| van den Heuvel, L | 1 |
| Nijtmans, L | 1 |
| Smeitink, J | 1 |
| Kruse, B | 1 |
| Hanefeld, F | 1 |
| Holzbach, U | 1 |
| Wilichowski, E | 1 |
| Christen, HJ | 1 |
| Merboldt, KD | 1 |
| Hänicke, W | 1 |
| Frahm, J | 1 |
| Morris, SA | 1 |
| Harbord, MG | 1 |
| Craigen, WJ | 1 |
| Kumagai, R | 1 |
| Ichikawa, K | 1 |
| Yasui, T | 1 |
| Kageyama, 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 |
| Nonaka, I | 1 |
| Detre, JA | 1 |
| Wang, ZY | 1 |
| Bogdan, AR | 1 |
| Gusnard, DA | 1 |
| Bay, CA | 1 |
| Bingham, PM | 1 |
| Zimmerman, RA | 1 |
| Ogier, H | 1 |
| Scholte, HR | 1 |
| Poll-The, BT | 1 |
| Fardeau, M | 1 |
| Alcardi, J | 1 |
| Vignes, B | 1 |
| Niaudet, P | 1 |
| Saudubray, JM | 1 |
| Ito, T | 1 |
| Narisawa, K | 1 |
| Iinuma, K | 1 |
| Tada, K | 1 |
| Stansbie, D | 1 |
| Wallace, SJ | 1 |
| Ohama, E | 1 |
| Ikuta, F | 1 |
| Nakamura, N | 1 |
| Van Erven, PM | 1 |
| Gabreëls, FJ | 1 |
| Ruitenbeek, W | 1 |
| Den Hartog, MR | 1 |
| Fischer, JC | 1 |
| Renier, WO | 1 |
| Trijbels, JM | 1 |
| Slooff, JL | 1 |
| Janssen, AJ | 1 |
| Kluitmann, G | 1 |
| Braumann, HG | 1 |
| Kratz, HW | 1 |
| Liersch, R | 1 |
| Langes, K | 1 |
| Seitz, RJ | 1 |
| Frenzel, H | 1 |
4 reviews available for lactic acid and Leigh Disease
| Article | Year |
|---|---|
Neuroimaging in mitochondrial disease.
Topics: Brain; Humans; Lactic Acid; Leigh Disease; Magnetic Resonance Imaging; MELAS Syndrome; Mitochondrial | 2023 |
[Complex II (succinate-ubiquinone reductase) deficiency].
Topics: Electron Transport; Electron Transport Complex II; Genes, Recessive; Humans; Lactic Acid; Leigh Dise | 2001 |
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 |
29 other studies available for lactic acid and Leigh Disease
| Article | Year |
|---|---|
m.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndrome.
Topics: DNA, Mitochondrial; Female; Humans; Lactic Acid; Leigh Disease; Mitochondrial Diseases; Mutation; Se | 2022 |
Lip cyanosis as the first symptom of Leigh syndrome associated with mitochondrial complex I deficiency due to a compound heterozygous NDUFS1 mutation: A case report.
Topics: Child; Cyanosis; Disease Progression; Electron Transport Complex I; Humans; Infant; Infant, Newborn; | 2022 |
Mitochondrial Dysfunction and Calcium Dysregulation in Leigh Syndrome Induced Pluripotent Stem Cell Derived Neurons.
Topics: Blotting, Western; Calcium; Cell Proliferation; Cells, Cultured; Electrophysiology; Fluorescent Anti | 2020 |
Japanese Leigh syndrome case treated with EPI-743.
Topics: Antioxidants; Brain; Child, Preschool; Disease Progression; Electron Transport Complex I; Female; Hu | 2018 |
Clinical, Neuroimaging, and Pathological Analyses of 13 Chinese Leigh Syndrome Patients with Mitochondrial DNA Mutations.
Topics: Child; Child, Preschool; Creatine Kinase; Cytochrome-c Oxidase Deficiency; DNA, Mitochondrial; Fasti | 2018 |
Detection of increased intracerebral lactate in a mouse model of Leigh syndrome using proton MR spectroscopy.
Topics: Alleles; Animals; Biomarkers; Brain; Disease Models, Animal; Disease Progression; Electron Transport | 2019 |
Persistent hyperlactacidaemia: about a clinical case.
Topics: Brain; Humans; Infant; Lactic Acid; Leigh Disease; Male; Pyruvate Dehydrogenase Complex Deficiency D | 2013 |
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 |
Efficacy of idebenone for respiratory failure in a patient with Leigh syndrome: a long-term follow-up study.
Topics: Adolescent; Brain Stem; Evoked Potentials, Auditory, Brain Stem; Follow-Up Studies; Humans; Lactic A | 2009 |
Leigh syndrome: clinical and neuroimaging follow-up.
Topics: Adolescent; Brain; Female; Follow-Up Studies; Humans; Infant; Lactic Acid; Leigh Disease; Magnetic R | 2009 |
MPTP intoxication in mice: a useful model of Leigh syndrome to study mitochondrial diseases in childhood.
Topics: 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine; Animals; Basal Ganglia; Basal Ganglia Diseases; Diseas | 2009 |
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 |
Pyruvate dehydrogenase deficiency as a result of splice-site mutations in the PDX1 gene.
Topics: Amino Acid Sequence; Base Sequence; Humans; Lactic Acid; Leigh Disease; Molecular Sequence Data; Mut | 2002 |
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 |
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 |
Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations.
Topics: Adenosine Triphosphate; Alanine; Basal Ganglia Diseases; Child; Child, Preschool; DNA, Mitochondrial | 2006 |
Proton spectroscopy in patients with Leigh's disease and mitochondrial enzyme deficiency.
Topics: Brain Chemistry; Humans; Infant; Lactates; Lactic Acid; Leigh Disease; Magnetic Resonance Spectrosco | 1994 |
Infant onset subacute necrotizing encephalomyelopathy (Leigh's disease)
Topics: Apnea; Blindness; Female; Humans; Infant; Lactates; Lactic Acid; Leigh Disease; Male; Seizures | 1993 |
Leigh disease with deficiency of lipoamide dehydrogenase: treatment failure with dichloroacetate.
Topics: Acidosis, Lactic; Amino Acids, Branched-Chain; Child, Preschool; Dichloroacetic Acid; Dihydrolipoami | 1996 |
Adult leigh syndrome: treatment with intravenous soybean oil for acute central respiratory failure.
Topics: Acute Disease; Adult; Diet; Fat Emulsions, Intravenous; Female; Humans; Injections, Intravenous; Ket | 1999 |
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 |
Regional variation in brain lactate in Leigh syndrome by localized 1H magnetic resonance spectroscopy.
Topics: Brain; Female; Humans; Hydrogen; Infant; Lactates; Lactic Acid; Leigh Disease; Magnetic Resonance Im | 1991 |
de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency.
Topics: Brain Diseases, Metabolic; Child, Preschool; Cytochrome-c Oxidase Deficiency; Fanconi Syndrome; Fema | 1988 |
Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy.
Topics: Acidosis; Adolescent; Brain Diseases, Metabolic; Carboxy-Lyases; Cells, Cultured; Child; Child, Pres | 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 |
[Acute course of Leigh syndrome with hypertrophic cardiomyopathy in a female infant].
Topics: Acidosis; Amino Acids; Brain Diseases, Metabolic; Cardiac Tamponade; Cardiomyopathy, Hypertrophic; D | 1985 |