Compounds > s-adenosylmethionine
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s-adenosylmethionine and Mitochondrial Diseases

s-adenosylmethionine has been researched along with Mitochondrial Diseases in 45 studies

Research

Studies (45)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's9 (20.00)29.6817
2010's31 (68.89)24.3611
2020's5 (11.11)2.80

Authors

AuthorsStudies
He, R; Huang, M; Kang, L; Li, X; Li, Y; Liu, Y; Ma, R; Men, J; Ren, J; Song, J; Yang, Y1
Bleeker, JC; Clarke, K; Cox, PJ; de Haan, FH; de Sain-van der Velden, MGM; Ferdinandusse, S; Houtkooper, RH; IJlst, L; Jeneson, JAL; Kok, IL; Langeveld, M; Sibeijn-Kuiper, A; Takken, T; van der Pol, WL; van der Woude, LH; van Weeghel, M; Visser, G; Wanders, RJA; Wijburg, FA; Wüst, RCI1
de Sain-van der Velden, MGM; Ferdinandusse, S; Houtkooper, RH; Knottnerus, SJG; Pras-Raves, ML; Schielen, PCJI; van der Ham, M; Visser, G; Wijburg, FA1
Baker, PR; Boyle, KE; Dabelea, D; De La Houssaye, BA; Friedman, JE; Patinkin, Z; Shapiro, AL; Vanderlinden, L; Woontner, M1
Fallier-Becker, P; Fend, F; Haen, S; Lehmann, R; Reddersen, S; Steiner, J; Vollmer, JP; Wolburg, H1
Albano, L; Crisci, D; Formisano, P; Gallo, G; Melis, D; Moccia, A; Parenti, G; Rossi, A; Ruoppolo, M; Strisciuglio, P; Villani, G1
Boenzi, S; Diodato, D1
Cusmano-Ozog, K; McGuire, PJ; Tarasenko, TN1
Hedberg-Oldfors, C; Kollberg, G; Lindgren, U; Oldfors, A; Roos, S; Sofou, K; Thomsen, C; Tulinius, M1
Abdenur, JE; Au, SM; Barshop, BA; Feuchtbaum, L; Harding, CO; Hermerath, C; Lorey, F; Merritt, JL; Sesser, DE; Thompson, JD; Vedal, S; Yu, A1
Ciapaite, J; Houten, SM; Nicolay, K; Prompers, JJ; van den Broek, NM; Wessels, B1
Aoyama, Y; Densupsoontorn, N; Fukao, T; Jirapinyo, P; Sathienkijkanchai, A; Vatanavicharn, N; Wasant, P; Yamada, K; Yamaguchi, S1
Bastin, J; Bennett, MJ; Chen, J; Doulias, PT; Ischiropoulos, H; Tenopoulou, M1
Furuyama, H; Hisahara, S; Imai, T; Matsushita, T; Shigematsu, Y; Shimohama, S; Tajima, G1
Ciapaite, J; Houten, SM; Nicolay, K; Prompers, JJ; van den Broek, NM; Wanders, RJ; Wessels, B1
Bick, DP; Burrage, LC; Craigen, WJ; Elsea, SH; Gibson, JB; Graham, BH; Lose, EJ; Miller, MJ; Strenk, ME; Sun, Q; Sutton, VR; Wong, LJ; Zhang, VW1
Brunengraber, H; Roe, CR1
Burrage, LC; Elsea, SH; Graham, BH; Kennedy, AD; Miller, MJ; Sun, Q; Sutton, VR; Wong, LJ1
Arnold, GL; Berry, SA; Cameron, C; Edick, MJ; Hansen, J; Leslie, N; Mohsen, AW; Pena, LD; van Calcar, SC; Vockley, J; Walsh Vockley, C1
Amory, H; Baise, E; Boemer, F; Cassart, D; Lemieux, H; Marcillaud-Pitel, C; Serteyn, D; van Galen, G; van Loon, G; Votion, DM1
Labarthe, F1
Acquaviva-Bourdain, C; Andresen, BS; Bedat-Millet, AL; Behin, A; Boespflug-Tanguy, O; Brivet, M; Chabrol, B; Chaigne, D; Delevaux, I; Eymard, B; Laforêt, P; Laroche, C; Lombès, A; Penisson-Besnier, I; Rigal, O; Vianey-Saban, C1
Briand, G; Dessein, AF; Dobbelaere, D; Fontaine, M; Martin-Ponthieu, A; Mention-Mulliez, K; Vamecq, J1
Fukuda, S; Hasegawa, Y; Kobayashi, H; Li, H; Mushimoto, Y; Purevsuren, J; Yamaguchi, S1
Bednarczyk, J; Bode, J; Das, AM; Hagebölling, F; Hass, R; Hoy, L; Illsinger, S; Janzen, N; Lücke, T; Mallunat, L; Sander, S; Schmidt, KH1
Marble, M; McGoey, RR1
Primassin, S; Spiekerkoetter, U; Tucci, S1
Conlon, T; Cossette, T; Dungtao, F; Erger, K; Flotte, TR; Keeler, AM; Mueller, C; Shaffer, SA; Tang, Q; Walter, G; Zeng, H1
Cheung, MM; Grubb, DR; Hardman, BM; Ke, BX; Koleff, J; Komen, JC; Laskowski, A; Lazarou, M; Pepe, S; Pitt, JJ; Rodda, FA; Ryan, MT; Smolich, JJ; Thorburn, DR1
Emoto, Y; Kuriu, Y; Matoba, R; Murayama, K; Ohtake, A; Tanaka, H; Yamamoto, T1
Biti, S; Dotsikas, Y; Doulgerakis, E; Georgiou, V; Loukas, YL; Molou, E; Papadopoulos, K; Thodi, G1
Fukao, T; Fukuda, S; Furui, M; Hasegawa, Y; Kobayashi, H; Li, H; Mushimoto, Y; Purevsuren, J; Takahashi, T; Taketani, T; Yamada, K; Yamaguchi, S1
Al-Thihli, K; Mezei, M; Nelson, J; Sinclair, G; Sirrs, S; Vallance, H1
Houten, SM; Ijlst, L; Tavares de Almeida, I; Te Brinke, H; Ventura, FV; Violante, S; Wanders, RJ1
Frye, RE; Macfabe, DF; Melnyk, S1
Bocian, M; Boyle, K; Gargus, JJ; Roe, CR; Roe, DS; Vianey-Saban, C1
Aledo, R; Casals, N; Champion, MP; Dalton, RN; Hegardt, FG; Mir, C; Pié, J; Turner, C1
Anderson, BD; Freedenberg, D; Hahn, SH; Kramer, KA; Oglesbee, D1
Osorio, JH; Pourfarzam, M1
Carpenter, K; Christodoulou, J; Hammond, J; Sim, KG; Wilcken, B1
Falkous, G; Freyer, C; Gorman, GS; Guha, N; Hopton, S; Lam, A; Lewis, D; Moedas, MF; Moore, D; Poulton, J; Pyle, A; Schober, FA; Sergeant, K; Smith, C; Tang, JX; Taylor, RW; Wredenberg, A; Zierz, CM1
Cheng, Y; Fang, L; Gao, L; Ji, Y; Wang, S; Xu, C; Zhao, J1
Bolar, NA; Bruhn, H; Freyer, C; Govaert, P; Jespers, A; Kishita, Y; Kohda, M; Lesko, N; Loeys, BL; Maffezzini, C; Marobbio, CM; Miniero, DV; Monné, M; Mourier, A; Murayama, K; Naess, K; Nennesmo, I; Ohtake, A; Okazaki, Y; Pajak, A; Palmieri, F; Stranneheim, H; Van Laer, L; Wedell, A; Wibom, R; Wredenberg, A1
Allen, RH; Luka, Z; Mudd, SH; Schroer, R; Stabler, SP; Wagner, C; Wang, J; Wong, LJ; Wood, T1
Barve, S; Cave, M; Deaciuc, I; Joshi-Barve, S; McClain, C; Mendez, C; Song, Z1

Reviews

3 review(s) available for s-adenosylmethionine and Mitochondrial Diseases

ArticleYear
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; Growth Differentiation Factor 15; Humans; Lactic Acid; Mitochondrial Diseases; Oxidative Phosphorylation; Pyruvic Acid

2018
[Determination of normal acylcarnitine levels in a healthy pediatric population as a diagnostic tool in inherited errors of mitochondrial fatty acid beta-oxidation].
    Anales de pediatria (Barcelona, Spain : 2003), 2007, Volume: 67, Issue:6

    Topics: Adolescent; Carnitine; Child; Child, Preschool; Fatty Acids; Female; Humans; Infant; Lipid Metabolism, Inborn Errors; Male; Mitochondrial Diseases; Oxidation-Reduction; Reference Values

2007
Nonalcoholic fatty liver disease: predisposing factors and the role of nutrition.
    The Journal of nutritional biochemistry, 2007, Volume: 18, Issue:3

    Topics: Betaine; Cytokines; Dietary Supplements; Environmental Exposure; Fatty Liver; Female; Humans; Insulin Resistance; Life Style; Liver; Liver Cirrhosis; Metabolic Syndrome; Methionine; Middle Aged; Mitochondrial Diseases; Oxidative Stress; S-Adenosylmethionine; United States; Vitamin E; Xenobiotics; Zinc

2007

Trials

1 trial(s) available for s-adenosylmethionine and Mitochondrial Diseases

ArticleYear
Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency.
    Journal of inherited metabolic disease, 2020, Volume: 43, Issue:4

    Topics: Adolescent; Adult; Beverages; Blood Glucose; Carnitine; Congenital Bone Marrow Failure Syndromes; Cross-Over Studies; Diet, Ketogenic; Endurance Training; Esters; Exercise Test; Female; Humans; Ketones; Ketosis; Lipid Metabolism, Inborn Errors; Magnetic Resonance Spectroscopy; Male; Middle Aged; Mitochondrial Diseases; Muscle, Skeletal; Muscular Diseases; Netherlands; Pulmonary Gas Exchange; Young Adult

2020

Other Studies

41 other study(ies) available for s-adenosylmethionine and Mitochondrial Diseases

ArticleYear
One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
    Clinica chimica acta; international journal of clinical chemistry, 2020, Volume: 503

    Topics: Acyl-CoA Dehydrogenase, Long-Chain; Asian People; Carnitine; China; Congenital Bone Marrow Failure Syndromes; Female; Humans; Hypoglycemia; Infant, Newborn; Lipid Metabolism, Inborn Errors; Liver Diseases; Male; Mitochondrial Diseases; Muscular Diseases; Mutation

2020
Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots.
    Biochimica et biophysica acta. Molecular basis of disease, 2020, 06-01, Volume: 1866, Issue:6

    Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Child; Child, Preschool; Congenital Bone Marrow Failure Syndromes; Dried Blood Spot Testing; Female; Humans; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Mass Spectrometry; Metabolomics; Mitochondrial Diseases; Muscular Diseases; Neonatal Screening; Phenotype

2020
Maternal obesity and increased neonatal adiposity correspond with altered infant mesenchymal stem cell metabolism.
    JCI insight, 2017, 11-02, Volume: 2, Issue:21

    Topics: Adiposity; Amino Acids; Biomarkers; Carnitine; Colorado; Electron Transport; Energy Metabolism; Fatty Acids; Female; Gene Expression Regulation, Developmental; Humans; Infant; Infant, Newborn; Insulin; Lipid Metabolism; Lipids; Longitudinal Studies; Male; Maternal Nutritional Physiological Phenomena; Mesenchymal Stem Cells; Mitochondria; Mitochondrial Diseases; Muscle Cells; Obesity; Pregnancy

2017
Propofol Related Infusion Syndrome: Ultrastructural Evidence for a Mitochondrial Disorder.
    Critical care medicine, 2018, Volume: 46, Issue:1

    Topics: Carnitine; Craniotomy; Hematoma, Subdural, Intracranial; Humans; Infusions, Intravenous; Male; Microscopy, Electron; Mitochondria, Heart; Mitochondria, Liver; Mitochondria, Muscle; Mitochondrial Diseases; Postoperative Complications; Propofol Infusion Syndrome; Young Adult

2018
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?
    Journal of inherited metabolic disease, 2018, Volume: 41, Issue:6

    Topics: Acids; Adolescent; Adult; Antiporters; Biomarkers; Carnitine; Case-Control Studies; Child; Child, Preschool; Female; Glucose-6-Phosphatase; Glycogen Storage Disease Type I; Humans; Insulin; Insulin Resistance; Linear Models; Male; Mitochondrial Diseases; Monosaccharide Transport Proteins; Multivariate Analysis; Urinalysis; Young Adult

2018
Tissue acylcarnitine status in a mouse model of mitochondrial β-oxidation deficiency during metabolic decompensation due to influenza virus infection.
    Molecular genetics and metabolism, 2018, Volume: 125, Issue:1-2

    Topics: Acyl-CoA Dehydrogenase, Long-Chain; Animals; Cardiomyopathies; Carnitine; Congenital Bone Marrow Failure Syndromes; Disease Models, Animal; Fatty Acids; Female; Humans; Hypoglycemia; Lipid Metabolism, Inborn Errors; Lipid Peroxidation; Liver; Liver Failure; Metabolic Diseases; Mice; Mitochondrial Diseases; Muscle, Skeletal; Muscular Diseases; Myocardium; Oxidation-Reduction

2018
Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile.
    European journal of human genetics : EJHG, 2019, Volume: 27, Issue:2

    Topics: Adolescent; Carnitine; Codon, Terminator; Electron Transport Complex IV; Female; Frameshift Mutation; Humans; Mitochondria, Muscle; Mitochondrial Diseases; Muscular Diseases

2019
Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.
    Molecular genetics and metabolism, 2014, Volume: 111, Issue:4

    Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Congenital Bone Marrow Failure Syndromes; Demography; DNA Mutational Analysis; Fatty Acids; Female; Genotype; Humans; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Mitochondrial Diseases; Muscular Diseases; Neonatal Screening; Phenotype; Reproducibility of Results

2014
Pioglitazone treatment restores in vivo muscle oxidative capacity in a rat model of diabetes.
    Diabetes, obesity & metabolism, 2015, Volume: 17, Issue:1

    Topics: Animals; Biomarkers; Carnitine; Diabetes Mellitus, Type 2; Hypertriglyceridemia; Hypoglycemic Agents; Hypolipidemic Agents; Lipid Metabolism; Male; Mitochondria, Muscle; Mitochondrial Diseases; Mitochondrial Turnover; Muscle, Skeletal; Obesity; Oxidative Phosphorylation; Oxidative Stress; Pioglitazone; PPAR gamma; Rats, Zucker; Thiazolidinediones

2015
Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response.
    Brain & development, 2015, Volume: 37, Issue:7

    Topics: Bezafibrate; Carnitine; Carnitine Acyltransferases; Cells, Cultured; Child, Preschool; Fatal Outcome; Female; Fibroblasts; Genes, Lethal; Humans; Hypolipidemic Agents; In Vitro Techniques; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Membrane Transport Proteins; Mitochondrial Diseases; Mutation; Treatment Outcome

2015
Strategies for correcting very long chain acyl-CoA dehydrogenase deficiency.
    The Journal of biological chemistry, 2015, Apr-17, Volume: 290, Issue:16

    Topics: Acetylcysteine; Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Amino Acid Sequence; Carnitine; Congenital Bone Marrow Failure Syndromes; Cysteine; Dose-Response Relationship, Drug; Fatty Acids; Fibroblasts; Genetic Therapy; Humans; Kinetics; Lipid Metabolism, Inborn Errors; Mitochondrial Diseases; Molecular Sequence Data; Muscular Diseases; Mutation; Oxidation-Reduction; Primary Cell Culture; Skin

2015
A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis.
    The Tohoku journal of experimental medicine, 2015, Volume: 235, Issue:4

    Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Amino Acid Sequence; Base Sequence; Carnitine; Congenital Bone Marrow Failure Syndromes; Exercise; Heterozygote; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Mitochondrial Diseases; Models, Molecular; Molecular Sequence Data; Muscular Diseases; Mutation, Missense; Protein Structure, Tertiary; Rhabdomyolysis; Sequence Alignment

2015
Carnitine supplementation in high-fat diet-fed rats does not ameliorate lipid-induced skeletal muscle mitochondrial dysfunction in vivo.
    American journal of physiology. Endocrinology and metabolism, 2015, Oct-01, Volume: 309, Issue:7

    Topics: Animals; Carnitine; Diet, High-Fat; Dietary Supplements; Lipid Metabolism; Lipids; Male; Mitochondria, Muscle; Mitochondrial Diseases; Muscle, Skeletal; Rats; Rats, Wistar

2015
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
    Molecular genetics and metabolism, 2015, Volume: 116, Issue:3

    Topics: Acyl-CoA Dehydrogenase, Long-Chain; Alleles; Carnitine; Computer Simulation; Congenital Bone Marrow Failure Syndromes; Exons; Female; Genetic Carrier Screening; Genotype; Humans; Hypoglycemia; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Mitochondrial Diseases; Muscular Diseases; Mutation, Missense; Neonatal Screening; Oligonucleotide Array Sequence Analysis; Sequence Analysis, DNA; Tandem Mass Spectrometry; United States

2015
Anaplerotic treatment of long-chain fat oxidation disorders with triheptanoin: Review of 15 years Experience.
    Molecular genetics and metabolism, 2015, Volume: 116, Issue:4

    Topics: Administration, Oral; Adolescent; Adult; Carnitine; Child; Child, Preschool; Citric Acid; Fatty Acids; Female; Humans; Infant; Infant, Newborn; Lactic Acid; Lipid Metabolism, Inborn Errors; Malates; Male; Middle Aged; Mitochondrial Diseases; Oxidation-Reduction; Succinic Acid; Survival Analysis; Treatment Outcome; Triglycerides

2015
Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma.
    The Journal of pediatrics, 2016, Volume: 169

    Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Carnitine; Child; Child, Preschool; Congenital Bone Marrow Failure Syndromes; Fasting; Female; Humans; Infant; Lipid Metabolism, Inborn Errors; Male; Mitochondrial Diseases; Muscular Diseases; Retrospective Studies

2016
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.
    Molecular genetics and metabolism, 2016, Volume: 118, Issue:4

    Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Carnitine; Child; Child, Preschool; Congenital Bone Marrow Failure Syndromes; Creatine Kinase; Female; Genetic Association Studies; Genotype; Humans; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Mitochondrial Diseases; Muscular Diseases; Mutation; Neonatal Screening; Retrospective Studies

2016
Mitochondrial function is altered in horse atypical myopathy.
    Mitochondrion, 2016, Volume: 30

    Topics: Acer; Animal Feed; Animals; Carnitine; Europe; Female; Horse Diseases; Horses; Hypoglycins; Male; Mitochondrial Diseases; Muscles; Muscular Diseases; Oxidative Phosphorylation

2016
[New therapeutic approaches in mitochondrial fatty acid oxidation disorders].
    Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 2008, Volume: 15, Issue:5

    Topics: Carnitine; Citric Acid Cycle; Fatty Acids; Humans; Mitochondrial Diseases; Mitochondrial Trifunctional Protein; Multienzyme Complexes

2008
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.
    Neuromuscular disorders : NMD, 2009, Volume: 19, Issue:5

    Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Adult; Biomarkers; Carnitine; Cells, Cultured; Child; DNA Mutational Analysis; Exercise Tolerance; Female; Genetic Testing; Genotype; Heterozygote; Homozygote; Humans; Male; Metabolism, Inborn Errors; Middle Aged; Mitochondrial Diseases; Muscle Weakness; Muscular Diseases; Mutation; Rhabdomyolysis; Young Adult

2009
Deuterated palmitate-driven acylcarnitine formation by whole-blood samples for a rapid diagnostic exploration of mitochondrial fatty acid oxidation disorders.
    Clinica chimica acta; international journal of clinical chemistry, 2009, Volume: 406, Issue:1-2

    Topics: Acyl-CoA Dehydrogenases; Adult; Blood Specimen Collection; Carnitine; Case-Control Studies; Child; Child, Preschool; Deuterium; Fatty Acids; Female; Humans; Infant; Infant, Newborn; Kinetics; Male; Mitochondrial Diseases; Mutation; Oxidation-Reduction; Palmitates; Time Factors

2009
Effect of heat stress and bezafibrate on mitochondrial beta-oxidation: comparison between cultured cells from normal and mitochondrial fatty acid oxidation disorder children using in vitro probe acylcarnitine profiling assay.
    Brain & development, 2010, Volume: 32, Issue:5

    Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Bezafibrate; Carnitine; Cells, Cultured; Child; Fatty Acids; Fibroblasts; Hot Temperature; Humans; Hypolipidemic Agents; Lipid Metabolism, Inborn Errors; Mitochondria; Mitochondrial Diseases; Oxidation-Reduction; Stress, Physiological

2010
Preeclampsia and HELLP syndrome: impaired mitochondrial function in umbilical endothelial cells.
    Reproductive sciences (Thousand Oaks, Calif.), 2010, Volume: 17, Issue:3

    Topics: Adult; Carnitine; Carnitine O-Palmitoyltransferase; Citrate (si)-Synthase; Electron Transport; Endothelial Cells; Energy Metabolism; Fatty Acids; Female; Glycolysis; HELLP Syndrome; Humans; Infant, Newborn; L-Lactate Dehydrogenase; Mitochondria; Mitochondrial Diseases; Multienzyme Complexes; Oxidation-Reduction; Phosphofructokinases; Pre-Eclampsia; Pregnancy; Umbilical Veins

2010
Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiency.
    The Journal of pediatrics, 2011, Volume: 158, Issue:6

    Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Congenital Bone Marrow Failure Syndromes; Female; Genotype; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Metabolism, Inborn Errors; Mitochondrial Diseases; Mothers; Muscular Diseases; Neonatal Screening; Phenotype

2011
Hepatic and muscular effects of different dietary fat content in VLCAD deficient mice.
    Molecular genetics and metabolism, 2011, Volume: 104, Issue:4

    Topics: Acyl-CoA Dehydrogenase, Long-Chain; Animals; Carnitine; Congenital Bone Marrow Failure Syndromes; Diet; Dietary Fats; Energy Metabolism; Glycogen; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Lipids; Lipogenesis; Liver; Mice; Mice, 129 Strain; Mice, Inbred C57BL; Mice, Knockout; Mitochondrial Diseases; Muscle, Skeletal; Muscular Diseases; Physical Exertion; Up-Regulation

2011
Long-term correction of very long-chain acyl-coA dehydrogenase deficiency in mice using AAV9 gene therapy.
    Molecular therapy : the journal of the American Society of Gene Therapy, 2012, Volume: 20, Issue:6

    Topics: Acyl-CoA Dehydrogenase, Long-Chain; Animals; Carnitine; Congenital Bone Marrow Failure Syndromes; Dependovirus; Gene Expression; Genetic Therapy; Genetic Vectors; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Liver; Mice; Mice, Knockout; Mitochondrial Diseases; Muscle, Skeletal; Muscular Diseases; Phenotype; Tissue Distribution; Transduction, Genetic

2012
Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy.
    Proceedings of the National Academy of Sciences of the United States of America, 2012, Apr-17, Volume: 109, Issue:16

    Topics: Adenosine Triphosphate; Animals; Animals, Newborn; Blotting, Western; Cardiomyopathies; Carnitine; Cell Line; Electron Transport Complex I; Female; Gene Expression Profiling; Heart; Humans; In Vitro Techniques; Kaplan-Meier Estimate; Male; Mice; Mice, 129 Strain; Mice, Inbred C57BL; Mice, Knockout; Microscopy, Electron; Mitochondria; Mitochondrial Diseases; Mutagenesis, Insertional; Myocardium; NADH Dehydrogenase; Reverse Transcriptase Polymerase Chain Reaction; RNA Splicing

2012
Metabolic autopsy with postmortem cultured fibroblasts in sudden unexpected death in infancy: diagnosis of mitochondrial respiratory chain disorders.
    Molecular genetics and metabolism, 2012, Volume: 106, Issue:4

    Topics: Autopsy; Carnitine; Cells, Cultured; Electron Transport; Enzyme Assays; Female; Fibroblasts; Humans; Infant; Infant, Newborn; Liver; Male; Mitochondrial Diseases; Myocardium; Postmortem Changes; Sudden Infant Death

2012
Characterization of the molecular spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in a Greek newborns cohort: identification of a novel variant.
    Clinical biochemistry, 2012, Volume: 45, Issue:15

    Topics: Acyl-CoA Dehydrogenase; Alleles; Base Sequence; Carnitine; Genetic Association Studies; Greece; Humans; Infant, Newborn; Mitochondrial Diseases; Molecular Sequence Data; Neonatal Screening; Polymorphism, Restriction Fragment Length; Prevalence; Sequence Analysis, DNA

2012
Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay.
    Molecular genetics and metabolism, 2012, Volume: 107, Issue:1-2

    Topics: Bezafibrate; Carboxylic Acids; Carnitine; Cells, Cultured; Fatty Acids; Fibroblasts; Humans; Mitochondrial Diseases; Oxidation-Reduction

2012
Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid β-oxidation disorders in adult patients with rhabdomyolysis.
    Journal of inherited metabolic disease, 2014, Volume: 37, Issue:2

    Topics: Adolescent; Adult; Biopsy; Carnitine; Carnitine O-Palmitoyltransferase; Dried Blood Spot Testing; Fatty Acids; Female; Humans; Lipid Metabolism, Inborn Errors; Male; Middle Aged; Mitochondrial Diseases; Oxidation-Reduction; Retrospective Studies; Rhabdomyolysis; Young Adult

2014
Carnitine palmitoyltransferase 2 and carnitine/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitines.
    FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 2013, Volume: 27, Issue:5

    Topics: Acyl-CoA Dehydrogenase; Carnitine; Carnitine Acyltransferases; Carnitine O-Palmitoyltransferase; Gene Knockdown Techniques; Humans; Membrane Transport Proteins; Mitochondria; Mitochondrial Diseases; Organic Cation Transport Proteins; Solute Carrier Family 22 Member 5

2013
Unique acyl-carnitine profiles are potential biomarkers for acquired mitochondrial disease in autism spectrum disorder.
    Translational psychiatry, 2013, Jan-22, Volume: 3

    Topics: Biomarkers; Carnitine; Child; Child Development Disorders, Pervasive; Cohort Studies; DNA, Mitochondrial; Electron Transport; Fatty Acids; Female; Humans; Male; Mitochondrial Diseases; Muscle, Skeletal; Propionates

2013
Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation.
    Journal of inherited metabolic disease, 2003, Volume: 26, Issue:7

    Topics: Acidosis, Lactic; Acyl-CoA Dehydrogenase; Behavior; Bicarbonates; Carnitine; Cell Line; Fatty Acids; Female; Fibroblasts; Growth; Humans; Infant, Newborn; Lactic Acid; Mitochondrial Diseases; Oxidation-Reduction; Oxidative Phosphorylation; Phenotype

2003
Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency.
    Journal of inherited metabolic disease, 2006, Volume: 29, Issue:1

    Topics: Carnitine; DNA Mutational Analysis; Genotype; Heterozygote; Humans; Hydroxymethylglutaryl-CoA Synthase; Infant; Male; Metabolism, Inborn Errors; Mitochondrial Diseases; Mutation

2006
Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis.
    Pediatric neurology, 2006, Volume: 35, Issue:4

    Topics: Acidosis, Lactic; Atrophy; Biopsy; Blotting, Western; Carnitine; Central Nervous System Cysts; Cerebral Ventricles; Diagnosis, Differential; DNA Mutational Analysis; Electron Transport Complex I; Female; Fibroblasts; Frontal Lobe; Humans; Infant, Newborn; Magnetic Resonance Imaging; Mitochondrial Diseases; Muscle, Skeletal; Nerve Fibers, Myelinated; Point Mutation

2006
Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid beta-oxidation disorders.
    Metabolism: clinical and experimental, 2002, Volume: 51, Issue:3

    Topics: Carnitine; Cells, Cultured; Fatty Acids; Fibroblasts; Humans; Mitochondria; Mitochondrial Diseases; Oxidation-Reduction; Reference Values

2002
Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease.
    Human molecular genetics, 2022, 06-22, Volume: 31, Issue:12

    Topics: Animals; Methylation; Mice; Mitochondria; Mitochondrial Diseases; S-Adenosylhomocysteine; S-Adenosylmethionine

2022
Identification and characterization of novel compound variants in SLC25A26 associated with combined oxidative phosphorylation deficiency 28.
    Gene, 2021, Dec-15, Volume: 804

    Topics: Amino Acid Transport Systems; Calcium-Binding Proteins; Exome; Exome Sequencing; Family; Female; Humans; Male; Mitochondria; Mitochondrial Diseases; Mutation; Oxidative Phosphorylation; Pedigree; S-Adenosylmethionine; Young Adult

2021
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.
    American journal of human genetics, 2015, Nov-05, Volume: 97, Issue:5

    Topics: Amino Acid Sequence; Amino Acid Transport Systems; Calcium-Binding Proteins; Child, Preschool; DNA Methylation; Female; Humans; Male; Mitochondrial Diseases; Molecular Sequence Data; Muscle Weakness; Mutation; Pedigree; Prognosis; RNA Stability; S-Adenosylmethionine; Sequence Homology, Amino Acid; Thioctic Acid; Ubiquinone

2015
Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine.
    Molecular genetics and metabolism, 2012, Volume: 105, Issue:2

    Topics: Adolescent; Base Sequence; DNA, Mitochondrial; Exons; Female; Glycine N-Methyltransferase; Humans; Infant; Liver; Male; Membrane Proteins; Methionine; Mitochondrial Diseases; Mitochondrial Proteins; Molecular Sequence Data; Mutation; S-Adenosylmethionine; Sequence Deletion

2012