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pyruvic acid and Electron Transport Chain Deficiencies, Mitochondrial

pyruvic acid has been researched along with Electron Transport Chain Deficiencies, Mitochondrial in 44 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.

Research Excerpts

ExcerptRelevanceReference
"Although the blood lactate-to-pyruvate (L:P) molar ratio is used to distinguish between pyruvate dehydrogenase deficiency (PDH-D) and other causes of congenital lactic acidosis (CLA), its diagnostic accuracy for differentiating between these 2 types of CLA has not been evaluated formally."7.74Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis. ( Allard, P; Debray, FG; Hanley, JA; Lambert, M; Mitchell, GA; Robinson, BH, 2007)
" A 48-week, prospective, single-centre, exploratory, clinical study enrolled 11 Japanese adult patients with genetically, biochemically, and clinically confirmed mitochondrial disease; they had intractable lactic acidosis and received SP (0."3.91Biomarkers and clinical rating scales for sodium pyruvate therapy in patients with mitochondrial disease. ( Inoue, E; Koga, Y; Nashiki, K; Povalko, N; Tanaka, M, 2019)
"Although the blood lactate-to-pyruvate (L:P) molar ratio is used to distinguish between pyruvate dehydrogenase deficiency (PDH-D) and other causes of congenital lactic acidosis (CLA), its diagnostic accuracy for differentiating between these 2 types of CLA has not been evaluated formally."3.74Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis. ( Allard, P; Debray, FG; Hanley, JA; Lambert, M; Mitchell, GA; Robinson, BH, 2007)
"Since mitochondrial disorders (MDs) can represent a diagnostic challenge for clinicians, due to their clinical and genetic heterogeneity, the identification of easily measurable biomarkers becomes a high priority."2.58Biomarkers for mitochondrial energy metabolism diseases. ( Boenzi, S; Diodato, D, 2018)
"According to previous studies, cerebral ischemia was defined as lactate/pyruvate (LP) ratio > 30 with intracerebral pyruvate level < 70 µmol L(-1)."1.42Bedside evaluation of cerebral energy metabolism in severe community-acquired bacterial meningitis. ( Andersen, ÅB; Jacobsen, A; Larsen, L; Nielsen, TH; Nordström, CH; Poulsen, FR; Schalén, W; Schulz, M, 2015)
"The diagnosis of mitochondrial disorders (MDs) is occasionally difficult because patients often present with solitary, or a combination of, symptoms caused by each organ insufficiency, which may be the result of respiratory chain enzyme deficiency."1.42Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders. ( Arahata, H; Fujita, Y; Fukumoto, Y; Ishii, A; Ito, M; Kakuma, T; Koga, Y; Kojima, T; Saiki, R; Tanaka, M; Yatsuga, S, 2015)
"This biochemical pattern contrasts to cerebral ischemia, which is characterized by a marked decrease in cerebral pyruvate."1.40Bedside diagnosis of mitochondrial dysfunction after malignant middle cerebral artery infarction. ( Nielsen, TH; Nordström, CH; Reinstrup, P; Schalén, W; Ståhl, N; Toft, P, 2014)
" Multivariate analysis showed that statin dosage was independently associated with MD (OR:1."1.36Mitochondrial dysfunction induced by statin contributes to endothelial dysfunction in patients with coronary artery disease. ( Chan, HT; Dai, YL; Fong, B; Lau, CP; Lee, SW; Li, SW; Luk, TH; Siu, CW; Tam, S; Tse, HF; Yiu, KH, 2010)
"The majority of children with autism (6 of 10) had complex I activity below control range values."1.36Mitochondrial dysfunction in autism. ( Giulivi, C; Hertz-Picciotto, I; Omanska-Klusek, A; Pessah, IN; Ross-Inta, C; Tassone, F; Wong, S; Zhang, YF, 2010)
"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."1.35Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia. ( Hargreaves, I; Kyprianou, N; Lee, P; Murphy, E, 2009)
"Epilepsy was present in 19 patients."1.33Mitochondrial dysfunction in autism spectrum disorders: a population-based study. ( Ataíde, A; Borges, L; Diogo, L; Garcia, P; Grazina, M; Marques, C; Miguel, T; Oliveira, CR; Oliveira, G; Vicente, AM, 2005)
"Diagnosis of mitochondrial disorders usually requires a muscle biopsy to examine mitochondrial function."1.33Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology. ( Janssen, AJ; Morava, E; Rodenburg, RJ; Ruitenbeek, W; Sengers, RC; Smeitink, JA; Trijbels, FJ; van den Heuvel, LP; van Engelen, BG; Wintjes, LT, 2006)
"Cardiac function decreased during hemorrhagic shock but improved significantly in the UTI group after transfusion compared with the control group."1.32Protective effect of urinary trypsin inhibitor on myocardial mitochondria during hemorrhagic shock and reperfusion. ( Ikeda, KM; Izumi, T; Masuda, T; Matsunaga, A; Matsuyama, N; Nagasawa, H; Noda, C; Ogura, MN; Sato, K; Shimizu, K, 2003)

Research

Studies (44)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's12 (27.27)29.6817
2010's26 (59.09)24.3611
2020's6 (13.64)2.80

Authors

AuthorsStudies
Hiraki, N1
Tanaka, TD1
Yoshimura, M1
Adant, I1
Bird, M1
Decru, B1
Windmolders, P1
Wallays, M1
de Witte, P1
Rymen, D1
Witters, P1
Vermeersch, P1
Cassiman, D1
Ghesquière, B1
Turton, N1
Cufflin, N1
Dewsbury, M1
Fitzpatrick, O1
Islam, R1
Watler, LL1
McPartland, C1
Whitelaw, S1
Connor, C1
Morris, C1
Fang, J1
Gartland, O1
Holt, L1
Hargreaves, IP1
Morava, E3
Oglesbee, D1
Suomalainen, A1
Deus, CM1
Pereira, SP1
Cunha-Oliveira, T1
Pereira, FB1
Raimundo, N1
Oliveira, PJ1
Sasaki, K1
Sakamoto, S1
Uchida, H1
Narumoto, S1
Shigeta, T1
Fukuda, A1
Ito, R1
Irie, R1
Yoshioka, T1
Murayama, K3
Kasahara, M1
Gupta, D1
Singla, R1
Mazzeo, AT1
Schnieder, EB1
Tandon, V1
Kale, SS1
Mahapatra, AK1
Munk, M1
Poulsen, FR2
Larsen, L2
Nordström, CH4
Nielsen, TH4
Semeraro, M1
Boenzi, S2
Carrozzo, R1
Diodato, D2
Martinelli, D1
Olivieri, G1
Antonetti, G1
Sacchetti, E1
Catesini, G1
Rizzo, C1
Dionisi-Vici, C1
Iannetti, EF1
Smeitink, JAM1
Willems, PHGM1
Beyrath, J1
Koopman, WJH1
Zhang, HY1
Tan, XX1
Kang, K1
Wang, W1
Lian, KQ1
Kang, WJ1
Koga, Y6
Povalko, N1
Inoue, E1
Nashiki, K1
Tanaka, M6
Schalén, W2
Ståhl, N1
Toft, P2
Reinstrup, P1
Fujii, T2
Nozaki, F1
Saito, K2
Hayashi, A1
Nishigaki, Y2
Hiejima, I1
Kumada, T2
Schulz, M1
Jacobsen, A1
Andersen, ÅB1
Fujita, Y2
Ito, M2
Kojima, T2
Yatsuga, S2
Danhauser, K1
Smeitink, JA3
Freisinger, P1
Sperl, W1
Sabir, H1
Hadzik, B1
Mayatepek, E1
Distelmaier, F1
Komulainen, T1
Lodge, T1
Hinttala, R1
Bolszak, M1
Pietilä, M1
Koivunen, P1
Hakkola, J1
Poulton, J1
Morten, KJ1
Uusimaa, J1
Ishii, A1
Fukumoto, Y1
Arahata, H1
Kakuma, T1
Saiki, R1
Inoue, T1
Murakami, N1
Ayabe, T1
Oto, Y1
Nishino, I1
Goto, Y1
Sakuta, R1
Feldman, AG1
Sokol, RJ1
Hardison, RM1
Alonso, EM1
Squires, RH1
Narkewicz, MR1
Kyprianou, N1
Murphy, E1
Lee, P1
Hargreaves, I1
Jonckheere, AI1
Huigsloot, M1
Janssen, AJ2
Kappen, AJ1
Rodenburg, RJ2
Dai, YL1
Luk, TH1
Siu, CW1
Yiu, KH1
Chan, HT1
Lee, SW1
Li, SW1
Tam, S1
Fong, B1
Lau, CP1
Tse, HF1
Bor-Seng-Shu, E1
de Lima Oliveira, M1
Teixeira, MJ1
Giulivi, C1
Zhang, YF1
Omanska-Klusek, A1
Ross-Inta, C1
Wong, S1
Hertz-Picciotto, I1
Tassone, F1
Pessah, IN1
Rossignol, DA1
Frye, RE1
Kimura, N1
Oda, N1
Shimomura, H1
Miyajima, T1
Yamada, K1
Toribe, Y1
Yanagihara, K1
Mano, T1
Akagi, M1
Suzuki, Y1
Mouadil, A1
Debout, C1
Read, MH1
Morello, R1
Allouche, S1
Chapon, F1
Bindslev, TT1
Pedersen, SM1
Olsen, NV1
Shah, NS1
Mitchell, WG1
Boles, RG1
Brivet, M1
Garcia-Cazorla, A1
Lyonnet, S1
Dumez, Y1
Nassogne, MC1
Slama, A1
Boutron, A1
Touati, G1
Legrand, A1
Saudubray, JM1
Masuda, T1
Sato, K1
Noda, C1
Ikeda, KM1
Matsunaga, A1
Ogura, MN1
Shimizu, K1
Nagasawa, H1
Matsuyama, N1
Izumi, T1
Oliveira, G2
Diogo, L2
Grazina, M2
Garcia, P1
Ataíde, A2
Marques, C2
Miguel, T2
Borges, L2
Vicente, AM2
Oliveira, CR1
Barnérias, C1
Giurgea, I1
Hertz-Pannier, L1
Bahi-Buisson, N1
Boddaert, N1
Rustin, P1
Rotig, A1
Desguerre, I1
Munnich, A1
de Lonlay, P1
Trijbels, FJ1
Sengers, RC1
Wintjes, LT1
Ruitenbeek, W1
van Engelen, BG1
van den Heuvel, LP1
Correia, C1
Coutinho, AM1
Almeida, J1
Oliveira, C1
Debray, FG1
Mitchell, GA1
Allard, P1
Robinson, BH1
Hanley, JA1
Lambert, M1
Fuku, N1
Ibi, T1
Sahashi, K1
Oguro, N1
Momoi, MY1
Hirai, M1
Suzuki, S1

Clinical Trials (5)

Trial Overview

TrialPhaseEnrollmentStudy TypeStart DateStatus
The Effects on Physical Activity on Mitochondrial Function in Skin Fibroblasts in Patients With Parkinson's Disease: a Study Protocol.[NCT05963425]24 participants (Anticipated)Interventional2023-09-01Recruiting
Continuous Monitoring of Cerebral Metabolic State. Combined Intracerebral and Jugular Bulb Microdialysis in Neurocritical Care.[NCT03314779]12 participants (Actual)Observational2017-08-28Completed
GDF-15 as a Biomarker for Mitochondrial Disease[NCT02745938]97 participants (Actual)Observational2016-06-30Completed
A Multi-Center Group to Study Acute Liver Failure in Children[NCT00986648]158 participants (Actual)Observational2000-01-31Completed
A Phase II, Monocenter, Single Arm Study To Assess The Safety and Efficacy Of Combination Deoxycytidine and Deoxythymidine For Mitochondrial Depletion Disorders[NCT04802707]Phase 250 participants (Anticipated)Interventional2021-10-18Recruiting
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Reviews

8 reviews available for pyruvic acid and Electron Transport Chain Deficiencies, Mitochondrial

ArticleYear
The Biochemical Assessment of Mitochondrial Respiratory Chain Disorders.
    International journal of molecular sciences, 2022, Jul-05, Volume: 23, Issue:13

    Topics: Electron Transport; Humans; Mitochondrial Diseases; Mitochondrial Membranes; Pyruvic Acid; Reproduci

2022
Laboratory and metabolic investigations.
    Handbook of clinical neurology, 2023, Volume: 194

    Topics: Amino Acids; Humans; Lactic Acid; Mitochondria; Mitochondrial Diseases; Pyruvic Acid

2023
Blood biomarkers of mitochondrial disease-One for all or all for one?
    Handbook of clinical neurology, 2023, Volume: 194

    Topics: Biomarkers; Humans; Mitochondria; Mitochondrial Diseases; Pyruvic Acid

2023
Biomarkers for mitochondrial energy metabolism diseases.
    Essays in biochemistry, 2018, 07-20, Volume: 62, Issue:3

    Topics: Amino Acids; Biomarkers; Carnitine; Creatine Kinase; Energy Metabolism; Fibroblast Growth Factors; G

2018
Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease.
    Journal of inherited metabolic disease, 2015, Volume: 38, Issue:3

    Topics: Acidosis, Lactic; Child; Child, Preschool; Disease Management; Humans; Hypothermia; Mitochondrial Di

2015
Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis.
    Molecular psychiatry, 2012, Volume: 17, Issue:3

    Topics: Adenosine Triphosphate; Adolescent; Animals; Biomarkers; Brain; Child; Child Development Disorders,

2012
[The screening test for mitochondrial disease].
    Nihon rinsho. Japanese journal of clinical medicine, 2002, Volume: 60 Suppl 4

    Topics: Biomarkers; Diagnosis, Differential; Glucose Tolerance Test; Humans; Lactic Acid; Mass Screening; Mi

2002
[Lactic acidosis].
    Nihon rinsho. Japanese journal of clinical medicine, 2002, Volume: 60 Suppl 4

    Topics: Acidosis, Lactic; Diagnosis, Differential; Humans; Mitochondria; Mitochondrial Diseases; Prognosis;

2002

Other Studies

36 other studies available for pyruvic acid and Electron Transport Chain Deficiencies, Mitochondrial

ArticleYear
A Man With Left Ventricular Hypertrophy.
    JAMA cardiology, 2022, 02-01, Volume: 7, Issue:2

    Topics: Adult; Atrophy; Cardiomyopathies; Cerebellar Diseases; Cognitive Dysfunction; Echocardiography; Gluc

2022
Pyruvate and uridine rescue the metabolic profile of OXPHOS dysfunction.
    Molecular metabolism, 2022, Volume: 63

    Topics: Animals; Metabolome; Mitochondrial Diseases; NAD; Oxidative Phosphorylation; Pyruvic Acid; Rotenone;

2022
Mitochondrial remodeling in human skin fibroblasts from sporadic male Parkinson's disease patients uncovers metabolic and mitochondrial bioenergetic defects.
    Biochimica et biophysica acta. Molecular basis of disease, 2020, 03-01, Volume: 1866, Issue:3

    Topics: Aged; Energy Metabolism; Fibroblasts; Galactose; Glucose; Humans; Male; Metabolic Diseases; Middle A

2020
Liver Transplantation for Mitochondrial Respiratory Chain Disorder: A Single-Center Experience and Excellent Marker of Differential Diagnosis.
    Transplantation proceedings, 2017, Volume: 49, Issue:5

    Topics: Adult; Biomarkers; Diagnosis, Differential; Female; Humans; Lactic Acid; Liver Failure, Acute; Liver

2017
Detection of metabolic pattern following decompressive craniectomy in severe traumatic brain injury: A microdialysis study.
    Brain injury, 2017, Volume: 31, Issue:12

    Topics: Brain Injuries, Traumatic; Cerebrovascular Circulation; Decompressive Craniectomy; Female; Glasgow O

2017
Cerebral Metabolic Changes Related to Oxidative Metabolism in a Model of Bacterial Meningitis Induced by Lipopolysaccharide.
    Neurocritical care, 2018, Volume: 29, Issue:3

    Topics: Animals; Cerebrum; Disease Models, Animal; Female; Lactic Acid; Lipopolysaccharides; Meningitis, Bac

2018
The urinary organic acids profile in single large-scale mitochondrial DNA deletion disorders.
    Clinica chimica acta; international journal of clinical chemistry, 2018, Volume: 481

    Topics: 3-Hydroxybutyric Acid; Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Child; Child, Preschool; Cong

2018
Rescue from galactose-induced death of Leigh Syndrome patient cells by pyruvate and NAD
    Cell death & disease, 2018, 11-14, Volume: 9, Issue:11

    Topics: Adenosine Triphosphate; Aspartic Acid; Cell Death; Culture Media; Electron Transport Complex I; Fibr

2018
Simultaneous determination of lactic acid and pyruvic acid in tissue and cell culture media by gas chromatography after in situ derivatization-ultrasound-assisted emulsification microextraction.
    Analytical and bioanalytical chemistry, 2019, Volume: 411, Issue:3

    Topics: Animals; Cells, Cultured; Chromatography, Gas; Citric Acid Cycle; Culture Media; Emulsions; Lactic A

2019
Biomarkers and clinical rating scales for sodium pyruvate therapy in patients with mitochondrial disease.
    Mitochondrion, 2019, Volume: 48

    Topics: Acidosis, Lactic; Adolescent; Adult; Biomarkers; Female; Fibroblast Growth Factors; Growth Different

2019
Bedside diagnosis of mitochondrial dysfunction after malignant middle cerebral artery infarction.
    Neurocritical care, 2014, Volume: 21, Issue:1

    Topics: Adolescent; Adult; Aged; Brain Ischemia; Cerebrum; Decompressive Craniectomy; Female; Humans; Infarc

2014
Efficacy of pyruvate therapy in patients with mitochondrial disease: a semi-quantitative clinical evaluation study.
    Molecular genetics and metabolism, 2014, Volume: 112, Issue:2

    Topics: Child; Drug Administration Schedule; Female; Glycolysis; Humans; Infant; Lactic Acid; Male; Mitochon

2014
Bedside evaluation of cerebral energy metabolism in severe community-acquired bacterial meningitis.
    Neurocritical care, 2015, Volume: 22, Issue:2

    Topics: Adolescent; Adult; Aged; Brain Ischemia; Child; Child, Preschool; Disease Transmission, Infectious;

2015
GDF15 is a novel biomarker to evaluate efficacy of pyruvate therapy for mitochondrial diseases.
    Mitochondrion, 2015, Volume: 20

    Topics: Biomarkers; Drug Monitoring; Gene Expression Profiling; Growth Differentiation Factor 15; Humans; Mi

2015
Sodium valproate induces mitochondrial respiration dysfunction in HepG2 in vitro cell model.
    Toxicology, 2015, May-04, Volume: 331

    Topics: Adenosine Triphosphate; Anticonvulsants; Cell Death; Cell Proliferation; Cell Respiration; Chemical

2015
Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders.
    Annals of neurology, 2015, Volume: 78, Issue:5

    Topics: Adolescent; Adult; Biomarkers; Child; Creatine Kinase; Female; Fibroblast Growth Factors; Growth Dif

2015
Pyruvate Improved Insulin Secretion Status in a Mitochondrial Diabetes Mellitus Patient.
    The Journal of clinical endocrinology and metabolism, 2016, Volume: 101, Issue:5

    Topics: Adult; C-Peptide; Diabetes Mellitus; Humans; Insulin; Male; Mitochondrial Diseases; Mutation; Pyruvi

2016
Lactate and Lactate: Pyruvate Ratio in the Diagnosis and Outcomes of Pediatric Acute Liver Failure.
    The Journal of pediatrics, 2017, Volume: 182

    Topics: Adolescent; Age Factors; Biomarkers; Child; Child, Preschool; Cohort Studies; Female; Humans; Lactic

2017
Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia.
    Journal of inherited metabolic disease, 2009, Volume: 32, Issue:2

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Cell Line, Tumor; Cells, Cultured; Culture Media; Elect

2009
High-throughput assay to measure oxygen consumption in digitonin-permeabilized cells of patients with mitochondrial disorders.
    Clinical chemistry, 2010, Volume: 56, Issue:3

    Topics: Cell Membrane Permeability; Cell Respiration; Cells, Cultured; Digitonin; Fibroblasts; Fluorescence;

2010
Mitochondrial dysfunction induced by statin contributes to endothelial dysfunction in patients with coronary artery disease.
    Cardiovascular toxicology, 2010, Volume: 10, Issue:2

    Topics: Aged; Biomarkers; Brachial Artery; Coronary Artery Disease; Dose-Response Relationship, Drug; Endoth

2010
Traumatic brain injury and metabolism.
    Journal of neurosurgery, 2010, Volume: 112, Issue:6

    Topics: Blood Flow Velocity; Blood Glucose; Brain; Brain Injuries; Craniotomy; Decompression, Surgical; Ener

2010
Mitochondrial dysfunction in autism.
    JAMA, 2010, Dec-01, Volume: 304, Issue:21

    Topics: Autistic Disorder; Case-Control Studies; Child, Preschool; DNA Copy Number Variations; DNA, Mitochon

2010
Pyruvate therapy for mitochondrial DNA depletion syndrome.
    Biochimica et biophysica acta, 2012, Volume: 1820, Issue:5

    Topics: DNA, Mitochondrial; Female; Humans; Infant; Mitochondrial Diseases; Pyruvic Acid; Syndrome

2012
Diagnostic accuracy of blood and CSF lactate in identifying children with mitochondrial diseases affecting the central nervous system.
    Brain & development, 2012, Volume: 34, Issue:2

    Topics: Adolescent; Area Under Curve; Central Nervous System Diseases; Child; Child, Preschool; Female; Huma

2012
Blood metabolite data in response to maximal exercise in healthy subjects.
    Clinical physiology and functional imaging, 2012, Volume: 32, Issue:4

    Topics: Adult; Ammonia; Biomarkers; Energy Metabolism; Exercise; Exercise Test; Exercise Tolerance; Female;

2012
Cerebral energy metabolism during induced mitochondrial dysfunction.
    Acta anaesthesiologica Scandinavica, 2013, Volume: 57, Issue:2

    Topics: Anesthesia, Inhalation; Anesthetics, Inhalation; Animals; Blood Gas Analysis; Blood Pressure; Body T

2013
Mitochondrial disorders: a potentially under-recognized etiology of infantile spasms.
    Journal of child neurology, 2002, Volume: 17, Issue:5

    Topics: Diagnosis, Differential; DNA, Mitochondrial; Energy Metabolism; Female; Humans; Infant; Infant, Newb

2002
Impaired mitochondrial pyruvate importation in a patient and a fetus at risk.
    Molecular genetics and metabolism, 2003, Volume: 78, Issue:3

    Topics: Algeria; Biological Transport; Cell Membrane Permeability; Cells, Cultured; Consanguinity; Digitonin

2003
Protective effect of urinary trypsin inhibitor on myocardial mitochondria during hemorrhagic shock and reperfusion.
    Critical care medicine, 2003, Volume: 31, Issue:7

    Topics: Adenosine Triphosphate; Animals; Blood Pressure; Blood Transfusion, Autologous; Energy Metabolism; G

2003
Mitochondrial dysfunction in autism spectrum disorders: a population-based study.
    Developmental medicine and child neurology, 2005, Volume: 47, Issue:3

    Topics: Adolescent; Autistic Disorder; Child; Comorbidity; Cross-Sectional Studies; Epilepsy; Female; Humans

2005
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome.
    Developmental medicine and child neurology, 2006, Volume: 48, Issue:3

    Topics: Basal Ganglia; Calcinosis; Chromatography, Gas; Dementia, Vascular; Female; Humans; Interferon-alpha

2006
Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology.
    Clinical chemistry, 2006, Volume: 52, Issue:5

    Topics: Adenosine Triphosphate; Adolescent; Adult; Biopsy; Carbon Radioisotopes; Carnitine; Child; Child, Pr

2006
Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene.
    Journal of autism and developmental disorders, 2006, Volume: 36, Issue:8

    Topics: Aspartic Acid; Autistic Disorder; Chromosome Mapping; DNA Mutational Analysis; DNA Primers; DNA, Mit

2006
Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis.
    Clinical chemistry, 2007, Volume: 53, Issue:5

    Topics: Acidosis, Lactic; Child; Diagnosis, Differential; Female; Hospitals, Pediatric; Humans; Lactic Acid;

2007
Therapeutic potential of pyruvate therapy for mitochondrial diseases.
    Mitochondrion, 2007, Volume: 7, Issue:6

    Topics: Adult; Animals; Calcium-Binding Proteins; Enzyme Activation; Ethanol; Female; Glycolysis; Humans; La

2007