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lactic acid and Complex IV Deficiency

lactic acid has been researched along with Complex IV Deficiency in 22 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.

Research Excerpts

ExcerptRelevanceReference
"An enzymatic study of cultured skin fibroblasts was made in 28 patients with lactic acidosis."7.67Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy. ( Iinuma, K; Ito, T; Miyabayashi, S; Narisawa, K; Tada, K, 1985)
"Three bedouin children with mitochondrial myopathy due to cytochrome c oxidase deficiency presented with progressive muscle weakness, failure to thrive, proximal renal tubular acidosis, and lactic acidemia leading to death."3.68Autosomal recessive lethal infantile cytochrome C oxidase deficiency. ( Aladjem, M; Barash, V; Barr, J; DiMauro, S; Eshel, G; Fried, K; Gutman, A; Lahat, E, 1991)
" 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."3.68The 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)
"An enzymatic study of cultured skin fibroblasts was made in 28 patients with lactic acidosis."3.67Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy. ( Iinuma, K; Ito, T; Miyabayashi, S; Narisawa, K; Tada, K, 1985)
"Alexander disease is a neurodegenerative disorder characterized by macrocephaly and progressive demyelination with frontal lobe preponderance."1.33Early mitochondrial dysfunction in an infant with Alexander disease. ( Cáceres-Marzal, C; Fernández, S; Galán, E; Vaquerizo, J, 2006)
"Focal COX deficiency was found in 14 (93%) of 15 patients and in nine (60%) of 15 controls."1.31Impaired redox status and cytochrome c oxidase deficiency in patients with polymyalgia rheumatica. ( Authier, FJ; Chariot, P; Chevalier, X; Drogou, I; Gherardi, R; Yerroum, M, 2001)
"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."1.29Liver 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."1.28Prenatal 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."1.28Variable presentation of cytochrome c oxidase deficiency. ( Cunniff, C; Keppler, K, 1992)

Research

Studies (22)

TimeframeStudies, this research(%)All Research%
pre-19904 (18.18)18.7374
1990's12 (54.55)18.2507
2000's4 (18.18)29.6817
2010's2 (9.09)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Yu, XL1
Yan, CZ1
Ji, KQ1
Lin, PF1
Xu, XB1
Dai, TJ1
Li, W1
Zhao, YY1
Szklarczyk, R1
Wanschers, BF1
Nijtmans, LG2
Rodenburg, RJ1
Zschocke, J1
Dikow, N1
van den Brand, MA1
Hendriks-Franssen, MG1
Gilissen, C1
Veltman, JA1
Nooteboom, M1
Koopman, WJ1
Willems, PH1
Smeitink, JA2
Huynen, MA1
van den Heuvel, LP1
Cáceres-Marzal, C1
Vaquerizo, J1
Galán, E1
Fernández, S1
Narisawa, K2
Miyabayashi, S2
Tada, K2
Edery, P1
Gérard, B1
Chretien, D1
Rötig, A1
Cerrone, R1
Rabier, D1
Rambaud, C1
Fabre, M1
Saudubray, JM2
Munnich, A1
Robinson, BH2
Bakker, HD1
Van den Bogert, C2
Drewes, JG1
Barth, PG2
Scholte, HR3
Wanders, RJ4
Ruitenbeek, W4
Lincke, CR1
Tamminga, P1
Rubio-Gozalbo, ME1
Ter Laak, H1
Mullaart, RA1
Schuelke, M1
Mariman, EC1
Sengers, RC3
Gabreëls, FJ1
Rizzo, C1
Bertini, E1
Piemonte, F1
Leuzzi, V1
Sabetta, G1
Federici, G1
Luchetti, A1
Dionisi-Vici, C1
Murakami, N1
Sakuta, R1
Chariot, P1
Chevalier, X1
Yerroum, M1
Drogou, I1
Authier, FJ1
Gherardi, R1
Wijburg, FA2
Ruiter, J1
Trijbels, JM2
Bakkeren, JA1
Feller, N2
Keppler, K1
Cunniff, C1
Beyenburg, S1
von Wersebe, O1
Zierz, S1
Lutz, R1
Garnica, A1
Shires, A1
Freneaux, E1
De Vivo, D1
Neuhoff, P1
Rhead, WJ1
Eshel, G1
Lahat, E1
Fried, K1
Barr, J1
Barash, V1
Gutman, A1
DiMauro, S1
Aladjem, M1
Przyrembel, H1
Glerum, DM1
Chow, W1
Petrova-Benedict, R1
Lightowlers, R1
Capaldi, R1
Ogier, H1
Lombes, A1
Poll-The, BT1
Fardeau, M1
Alcardi, J1
Vignes, B1
Niaudet, P1
Ito, T1
Iinuma, K1
Yokochi, K1

Reviews

2 reviews available for lactic acid and Complex IV Deficiency

ArticleYear
Lacticacidemia.
    Biochimica et biophysica acta, 1993, Oct-20, Volume: 1182, Issue:3

    Topics: Adenosine Triphosphatases; Amino Acid Sequence; Animals; Binding Sites; Carrier Proteins; Cytochrome

1993
[Pure mitochondrial myopathy].
    Ryoikibetsu shokogun shirizu, 2001, Issue:36

    Topics: Child; Cytochrome-c Oxidase Deficiency; Electron Transport Complex I; Electron Transport Complex II;

2001

Other Studies

20 other studies available for lactic acid and Complex IV Deficiency

ArticleYear
Clinical, Neuroimaging, and Pathological Analyses of 13 Chinese Leigh Syndrome Patients with Mitochondrial DNA Mutations.
    Chinese medical journal, 2018, Nov-20, Volume: 131, Issue:22

    Topics: Child; Child, Preschool; Creatine Kinase; Cytochrome-c Oxidase Deficiency; DNA, Mitochondrial; Fasti

2018
A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
    Human molecular genetics, 2013, Feb-15, Volume: 22, Issue:4

    Topics: Abnormalities, Multiple; Amino Acid Sequence; Animals; Ataxia; Base Sequence; Cells, Cultured; Child

2013
Early mitochondrial dysfunction in an infant with Alexander disease.
    Pediatric neurology, 2006, Volume: 35, Issue:4

    Topics: Alexander Disease; Biopsy; Brain; Cytochrome-c Oxidase Deficiency; Diagnosis, Differential; Female;

2006
[Congenital lactic acidemia].
    Rinsho shinkeigaku = Clinical neurology, 1983, Volume: 23, Issue:12

    Topics: Acidosis; Brain Diseases, Metabolic; Child; Cytochrome-c Oxidase Deficiency; Humans; Infant; Lactate

1983
Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure.
    European journal of pediatrics, 1994, Volume: 153, Issue:3

    Topics: Cytochrome-c Oxidase Deficiency; Female; Humans; Infant; Lactates; Lactic Acid; Liver; Liver Failure

1994
Progressive generalized brain atrophy and infantile spasms associated with cytochrome c oxidase deficiency.
    Journal of inherited metabolic disease, 1996, Volume: 19, Issue:2

    Topics: Acidosis; Atrophy; Brain; Cytochrome-c Oxidase Deficiency; Humans; Infant, Newborn; Lactates; Lactic

1996
Cerebellar hypoplasia in respiratory chain dysfunction.
    Neuropediatrics, 1996, Volume: 27, Issue:4

    Topics: Cerebellum; Consanguinity; Cytochrome-c Oxidase Deficiency; Fatal Outcome; Female; Humans; Infant, N

1996
Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency.
    Neurology, 1999, Jan-15, Volume: 52, Issue:2

    Topics: Blotting, Western; Cardiomegaly; Cells, Cultured; Cytochrome-c Oxidase Deficiency; Fibroblasts; Huma

1999
Oxidative abnormalities in Menkes disease.
    Journal of inherited metabolic disease, 2000, Volume: 23, Issue:4

    Topics: Cells, Cultured; Ceruloplasmin; Copper; Cytochrome-c Oxidase Deficiency; Fibroblasts; Histidine; Hum

2000
Impaired redox status and cytochrome c oxidase deficiency in patients with polymyalgia rheumatica.
    Annals of the rheumatic diseases, 2001, Volume: 60, Issue:11

    Topics: Aged; Aged, 80 and over; Biopsy; Case-Control Studies; Cytochrome-c Oxidase Deficiency; Female; Huma

2001
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.
    Journal of inherited metabolic disease, 1992, Volume: 15, Issue:1

    Topics: Amnion; Cells, Cultured; Chorionic Villi; Cytochrome-c Oxidase Deficiency; Female; Fibroblasts; Gluc

1992
Variable presentation of cytochrome c oxidase deficiency.
    American journal of diseases of children (1960), 1992, Volume: 146, Issue:11

    Topics: Cytochrome-c Oxidase Deficiency; Female; Humans; Infant, Newborn; Lactates; Lactic Acid; Male; Metab

1992
[Delayed manifestation of mitochondrial myopathy--complex I and IV deficiency of the mitochondrial respiratory chain with progressive paresis].
    Der Nervenarzt, 1991, Volume: 62, Issue:8

    Topics: Biopsy; Cytochrome-c Oxidase Deficiency; Electromyography; Humans; Lactates; Lactic Acid; Male; Midd

1991
An atypical case of cytochrome c oxidase deficiency with biochemical heterogeneity in fibroblasts.
    Neurology, 1991, Volume: 41, Issue:12

    Topics: Cells, Cultured; Child, Preschool; Cytochrome-c Oxidase Deficiency; Electrophoresis, Polyacrylamide

1991
Autosomal recessive lethal infantile cytochrome C oxidase deficiency.
    American journal of diseases of children (1960), 1991, Volume: 145, Issue:6

    Topics: Acidosis, Renal Tubular; Child, Preschool; Consanguinity; Cytochrome-c Oxidase Deficiency; Electron

1991
Detection of respiratory chain dysfunction by measuring lactate and pyruvate production in cultured fibroblasts.
    Journal of inherited metabolic disease, 1990, Volume: 13, Issue:3

    Topics: Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Child, Preschool; Cytochrome-c Oxidase Defici

1990
The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia.
    Pediatric research, 1990, Volume: 28, Issue:5

    Topics: Acidosis, Lactic; Brain Diseases; Cells, Cultured; Cytochrome-c Oxidase Deficiency; Fibroblasts; Hum

1990
de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency.
    The Journal of pediatrics, 1988, Volume: 112, Issue:5

    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.
    European journal of pediatrics, 1985, Volume: 143, Issue:4

    Topics: Acidosis; Adolescent; Brain Diseases, Metabolic; Carboxy-Lyases; Cells, Cultured; Child; Child, Pres

1985
[Neurological approach to mitochondrial abnormalities].
    No to hattatsu = Brain and development, 1987, Volume: 19, Issue:2

    Topics: Adolescent; Brain Diseases; Child; Child, Preschool; Cytochrome-c Oxidase Deficiency; Female; Humans

1987