carnitine has been researched along with Mitochondrial Diseases in 76 studies
Mitochondrial Diseases: Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.
| Excerpt | Relevance | Reference |
|---|---|---|
| "We conclude that the removal of dysfunctional mitochondria by induction of autophagy through PPARγ may be a novel mechanism by which carnitine improves insulin resistance and mitochondrial dysfunction in obesity." | 3.88 | Carnitine induces autophagy and restores high-fat diet-induced mitochondrial dysfunction. ( Choi, JW; Chung, SS; Jang, HC; Jung, HS; Ohn, JH; Park, KS; Park, YJ, 2018) |
| " The initial patient, and later her newborn sibling, had mildly dysmorphic features, lactic acidosis and a defect in mitochondrial respiratory complex II associated with many biochemical features of a block in fatty acid oxidation." | 3.72 | Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation. ( Bocian, M; Boyle, K; Gargus, JJ; Roe, CR; Roe, DS; Vianey-Saban, C, 2003) |
| "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." | 2.58 | Biomarkers for mitochondrial energy metabolism diseases. ( Boenzi, S; Diodato, D, 2018) |
| "Mitochondrial myopathies are a heterogeneous group of disorders associated with a wide range of clinical phenotypes." | 1.51 | Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile. ( Hedberg-Oldfors, C; Kollberg, G; Lindgren, U; Oldfors, A; Roos, S; Sofou, K; Thomsen, C; Tulinius, M, 2019) |
| "Maternal obesity is a global health problem that increases offspring obesity risk." | 1.46 | Maternal obesity and increased neonatal adiposity correspond with altered infant mesenchymal stem cell metabolism. ( Baker, PR; Boyle, KE; Dabelea, D; De La Houssaye, BA; Friedman, JE; Patinkin, Z; Shapiro, AL; Vanderlinden, L; Woontner, M, 2017) |
| "Mild methylmalonic aciduria was detected by elevated urine methylmalonic acid and blood propionylcarnitine at the age of 6 months to 2 years and 8 months." | 1.43 | [Clinical and laboratory studies on four Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria]. ( Ding, Y; Li, DX; Li, XY; Liu, YP; Qin, YP; Song, JQ; Wang, Q; Yang, YL; Zhang, Y, 2016) |
| "Pioglitazone treatment restored in vivo muscle oxidative capacity in diabetic rats to the level of lean controls." | 1.42 | Pioglitazone treatment restores in vivo muscle oxidative capacity in a rat model of diabetes. ( Ciapaite, J; Houten, SM; Nicolay, K; Prompers, JJ; van den Broek, NM; Wessels, B, 2015) |
| "Autism spectrum disorder (ASD) with intellectual disability (ID) is a life-long debilitating condition, which is characterized by cognitive function impairment and other neurological signs." | 1.42 | Autism and intellectual disability associated with mitochondrial disease and hyperlactacidemia. ( Cauli, O; González-Guevara, L; Guevara-Campos, J, 2015) |
| "Rhabdomyolysis was diagnosed based on the marked elevation of serum creatine kinase and myoglobinuria." | 1.42 | A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis. ( Furuyama, H; Hisahara, S; Imai, T; Matsushita, T; Shigematsu, Y; Shimohama, S; Tajima, G, 2015) |
| "Carnitine insufficiency is a common feature of insulin-resistant states and might lead to incomplete fatty acid oxidation and impaired export of lipid intermediates out of the mitochondria." | 1.42 | Carnitine supplementation in high-fat diet-fed rats does not ameliorate lipid-induced skeletal muscle mitochondrial dysfunction in vivo. ( Ciapaite, J; Houten, SM; Nicolay, K; Prompers, JJ; van den Broek, NM; Wanders, RJ; Wessels, B, 2015) |
| "Acyl-carnitine panels were determined to be abnormal if three or more individual acyl-carnitine species were abnormal in the panel and these abnormalities were verified by repeated testing." | 1.39 | Unique acyl-carnitine profiles are potential biomarkers for acquired mitochondrial disease in autism spectrum disorder. ( Frye, RE; Macfabe, DF; Melnyk, S, 2013) |
| "Treatment of mitochondrial disorders is currently inadequate, emphasizing the need for experimental models." | 1.38 | Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy. ( 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, DR, 2012) |
| "Diagnosis of mitochondrial disorders usually requires a muscle biopsy to examine mitochondrial function." | 1.33 | Measurement 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) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 17 (22.37) | 29.6817 |
| 2010's | 49 (64.47) | 24.3611 |
| 2020's | 10 (13.16) | 2.80 |
| Authors | Studies |
|---|---|
| Ziats, CA | 1 |
| Burns, WB | 1 |
| Tedder, ML | 1 |
| Pollard, L | 1 |
| Wood, T | 1 |
| Champaigne, NL | 1 |
| Ambrose, A | 1 |
| Sheehan, M | 1 |
| Bahl, S | 1 |
| Athey, T | 1 |
| Ghai-Jain, S | 1 |
| Chan, A | 1 |
| Mercimek-Andrews, S | 1 |
| Balci, MC | 1 |
| Karaca, M | 1 |
| Ergul, Y | 1 |
| Omeroglu, RE | 1 |
| Demirkol, M | 1 |
| Gokcay, GF | 1 |
| de Moraes, MS | 1 |
| Guerreiro, G | 1 |
| Sitta, A | 1 |
| de Moura Coelho, D | 1 |
| Manfredini, V | 1 |
| Wajner, M | 1 |
| Vargas, CR | 1 |
| Li, X | 2 |
| Ma, R | 1 |
| Liu, Y | 2 |
| Kang, L | 1 |
| He, R | 1 |
| Song, J | 2 |
| Ren, J | 1 |
| Li, Y | 1 |
| Huang, M | 1 |
| Men, J | 1 |
| Yang, Y | 2 |
| Bleeker, JC | 1 |
| Visser, G | 2 |
| Clarke, K | 1 |
| Ferdinandusse, S | 2 |
| de Haan, FH | 1 |
| Houtkooper, RH | 2 |
| IJlst, L | 2 |
| Kok, IL | 1 |
| Langeveld, M | 1 |
| van der Pol, WL | 1 |
| de Sain-van der Velden, MGM | 2 |
| Sibeijn-Kuiper, A | 1 |
| Takken, T | 1 |
| Wanders, RJA | 1 |
| van Weeghel, M | 1 |
| Wijburg, FA | 2 |
| van der Woude, LH | 1 |
| Wüst, RCI | 1 |
| Cox, PJ | 1 |
| Jeneson, JAL | 1 |
| Knottnerus, SJG | 1 |
| Pras-Raves, ML | 1 |
| van der Ham, M | 1 |
| Schielen, PCJI | 1 |
| Wang, S | 1 |
| Leng, J | 1 |
| Diao, C | 1 |
| Wang, Y | 1 |
| Zheng, R | 1 |
| Alhashem, A | 1 |
| Mohamed, S | 1 |
| Abdelraheem, M | 1 |
| AlGufaydi, B | 1 |
| Al-Aqeel, A | 1 |
| Lin, Y | 1 |
| Zhang, W | 1 |
| Chen, D | 1 |
| Lin, C | 1 |
| Zheng, Z | 1 |
| Fu, Q | 1 |
| Li, M | 1 |
| Peng, W | 1 |
| Choi, JW | 1 |
| Ohn, JH | 1 |
| Jung, HS | 1 |
| Park, YJ | 1 |
| Jang, HC | 1 |
| Chung, SS | 1 |
| Park, KS | 1 |
| Baker, PR | 1 |
| Patinkin, Z | 1 |
| Shapiro, AL | 1 |
| De La Houssaye, BA | 1 |
| Woontner, M | 1 |
| Boyle, KE | 1 |
| Vanderlinden, L | 1 |
| Dabelea, D | 1 |
| Friedman, JE | 1 |
| Vollmer, JP | 1 |
| Haen, S | 1 |
| Wolburg, H | 1 |
| Lehmann, R | 1 |
| Steiner, J | 1 |
| Reddersen, S | 1 |
| Fend, F | 1 |
| Fallier-Becker, P | 1 |
| Rossi, A | 1 |
| Ruoppolo, M | 1 |
| Formisano, P | 1 |
| Villani, G | 1 |
| Albano, L | 1 |
| Gallo, G | 1 |
| Crisci, D | 1 |
| Moccia, A | 1 |
| Parenti, G | 1 |
| Strisciuglio, P | 1 |
| Melis, D | 1 |
| Boenzi, S | 1 |
| Diodato, D | 1 |
| Tarasenko, TN | 1 |
| Cusmano-Ozog, K | 1 |
| McGuire, PJ | 1 |
| Roos, S | 1 |
| Sofou, K | 1 |
| Hedberg-Oldfors, C | 1 |
| Kollberg, G | 1 |
| Lindgren, U | 1 |
| Thomsen, C | 1 |
| Tulinius, M | 1 |
| Oldfors, A | 1 |
| Janeiro, P | 1 |
| Jotta, R | 1 |
| Ramos, R | 1 |
| Florindo, C | 1 |
| Ventura, FV | 2 |
| Vilarinho, L | 1 |
| Tavares de Almeida, I | 2 |
| Gaspar, A | 1 |
| Tong, F | 1 |
| Chen, T | 1 |
| Jiang, P | 1 |
| Yang, R | 1 |
| Zhao, Z | 1 |
| Shu, Q | 1 |
| Modanloo, M | 1 |
| Shokrzadeh, M | 1 |
| Rovelli, V | 1 |
| Manzoni, F | 1 |
| Viau, K | 1 |
| Pasquali, M | 2 |
| Longo, N | 2 |
| Waisbren, SE | 2 |
| Landau, Y | 1 |
| Wilson, J | 1 |
| Vockley, J | 2 |
| Ndukwe Erlingsson, UC | 1 |
| Iacobazzi, F | 1 |
| Liu, A | 1 |
| Ardon, O | 1 |
| Nouws, J | 1 |
| Te Brinke, H | 2 |
| Nijtmans, LG | 1 |
| Houten, SM | 4 |
| Nicolson, GL | 1 |
| Merritt, JL | 1 |
| Vedal, S | 1 |
| Abdenur, JE | 1 |
| Au, SM | 1 |
| Barshop, BA | 1 |
| Feuchtbaum, L | 1 |
| Harding, CO | 1 |
| Hermerath, C | 1 |
| Lorey, F | 1 |
| Sesser, DE | 1 |
| Thompson, JD | 1 |
| Yu, A | 1 |
| Wessels, B | 2 |
| Ciapaite, J | 2 |
| van den Broek, NM | 2 |
| Nicolay, K | 2 |
| Prompers, JJ | 2 |
| Vatanavicharn, N | 1 |
| Yamada, K | 2 |
| Aoyama, Y | 1 |
| Fukao, T | 2 |
| Densupsoontorn, N | 1 |
| Jirapinyo, P | 1 |
| Sathienkijkanchai, A | 1 |
| Yamaguchi, S | 4 |
| Wasant, P | 2 |
| Ding, Y | 2 |
| Ma, Y | 1 |
| Wang, Q | 2 |
| Guevara-Campos, J | 1 |
| González-Guevara, L | 1 |
| Cauli, O | 1 |
| Tenopoulou, M | 1 |
| Chen, J | 1 |
| Bastin, J | 1 |
| Bennett, MJ | 1 |
| Ischiropoulos, H | 1 |
| Doulias, PT | 1 |
| Hisahara, S | 1 |
| Matsushita, T | 1 |
| Furuyama, H | 1 |
| Tajima, G | 1 |
| Shigematsu, Y | 1 |
| Imai, T | 1 |
| Shimohama, S | 1 |
| Wanders, RJ | 2 |
| Miller, MJ | 2 |
| Burrage, LC | 2 |
| Gibson, JB | 1 |
| Strenk, ME | 1 |
| Lose, EJ | 1 |
| Bick, DP | 1 |
| Elsea, SH | 2 |
| Sutton, VR | 2 |
| Sun, Q | 2 |
| Graham, BH | 2 |
| Craigen, WJ | 1 |
| Zhang, VW | 1 |
| Wong, LJ | 3 |
| Roe, CR | 2 |
| Brunengraber, H | 1 |
| Kennedy, AD | 1 |
| Ryder, B | 1 |
| Knoll, D | 1 |
| Love, DR | 1 |
| Shepherd, P | 1 |
| Love, JM | 1 |
| Reed, PW | 1 |
| de Hora, M | 1 |
| Webster, D | 1 |
| Glamuzina, E | 1 |
| Wilson, C | 1 |
| Liu, YP | 1 |
| Li, XY | 1 |
| Song, JQ | 1 |
| Zhang, Y | 1 |
| Li, DX | 1 |
| Qin, YP | 1 |
| Yang, YL | 1 |
| Pena, LD | 1 |
| van Calcar, SC | 1 |
| Hansen, J | 1 |
| Edick, MJ | 1 |
| Walsh Vockley, C | 1 |
| Leslie, N | 1 |
| Cameron, C | 1 |
| Mohsen, AW | 1 |
| Berry, SA | 1 |
| Arnold, GL | 1 |
| Lemieux, H | 1 |
| Boemer, F | 1 |
| van Galen, G | 1 |
| Serteyn, D | 1 |
| Amory, H | 1 |
| Baise, E | 1 |
| Cassart, D | 1 |
| van Loon, G | 1 |
| Marcillaud-Pitel, C | 1 |
| Votion, DM | 1 |
| Karaa, A | 1 |
| Kriger, J | 1 |
| Grier, J | 1 |
| Holbert, A | 1 |
| Thompson, JL | 1 |
| Parikh, S | 2 |
| Hirano, M | 1 |
| Landau, YE | 1 |
| Chan, LM | 1 |
| Levy, HL | 1 |
| Labarthe, F | 1 |
| Laforêt, P | 1 |
| Acquaviva-Bourdain, C | 1 |
| Rigal, O | 1 |
| Brivet, M | 1 |
| Penisson-Besnier, I | 1 |
| Chabrol, B | 1 |
| Chaigne, D | 1 |
| Boespflug-Tanguy, O | 1 |
| Laroche, C | 1 |
| Bedat-Millet, AL | 1 |
| Behin, A | 1 |
| Delevaux, I | 1 |
| Lombès, A | 1 |
| Andresen, BS | 1 |
| Eymard, B | 1 |
| Vianey-Saban, C | 2 |
| Dessein, AF | 1 |
| Fontaine, M | 1 |
| Dobbelaere, D | 1 |
| Mention-Mulliez, K | 1 |
| Martin-Ponthieu, A | 1 |
| Briand, G | 1 |
| Vamecq, J | 1 |
| Li, H | 2 |
| Fukuda, S | 2 |
| Hasegawa, Y | 2 |
| Kobayashi, H | 2 |
| Purevsuren, J | 2 |
| Mushimoto, Y | 2 |
| Orsucci, D | 1 |
| Filosto, M | 1 |
| Siciliano, G | 1 |
| Mancuso, M | 1 |
| Ono, H | 1 |
| Muoio, DM | 1 |
| Illsinger, S | 1 |
| Janzen, N | 1 |
| Sander, S | 1 |
| Schmidt, KH | 1 |
| Bednarczyk, J | 1 |
| Mallunat, L | 1 |
| Bode, J | 1 |
| Hagebölling, F | 1 |
| Hoy, L | 1 |
| Lücke, T | 1 |
| Hass, R | 1 |
| Das, AM | 1 |
| McGoey, RR | 1 |
| Marble, M | 1 |
| Potter, BK | 1 |
| Little, J | 1 |
| Chakraborty, P | 1 |
| Kronick, JB | 1 |
| Evans, J | 1 |
| Frei, J | 1 |
| Sutherland, SC | 1 |
| Wilson, K | 1 |
| Wilson, BJ | 1 |
| Primassin, S | 1 |
| Tucci, S | 1 |
| Spiekerkoetter, U | 1 |
| Schiff, M | 1 |
| Bénit, P | 1 |
| El-Khoury, R | 1 |
| Schlemmer, D | 1 |
| Benoist, JF | 1 |
| Rustin, P | 1 |
| Keeler, AM | 1 |
| Conlon, T | 1 |
| Walter, G | 1 |
| Zeng, H | 1 |
| Shaffer, SA | 1 |
| Dungtao, F | 1 |
| Erger, K | 1 |
| Cossette, T | 1 |
| Tang, Q | 1 |
| Mueller, C | 1 |
| Flotte, TR | 1 |
| Ke, BX | 1 |
| Pepe, S | 1 |
| Grubb, DR | 1 |
| Komen, JC | 1 |
| Laskowski, A | 1 |
| Rodda, FA | 1 |
| Hardman, BM | 1 |
| Pitt, JJ | 1 |
| Ryan, MT | 1 |
| Lazarou, M | 1 |
| Koleff, J | 1 |
| Cheung, MM | 1 |
| Smolich, JJ | 1 |
| Thorburn, DR | 1 |
| Yamamoto, T | 1 |
| Emoto, Y | 1 |
| Murayama, K | 1 |
| Tanaka, H | 1 |
| Kuriu, Y | 1 |
| Ohtake, A | 1 |
| Matoba, R | 1 |
| Thodi, G | 1 |
| Georgiou, V | 1 |
| Molou, E | 1 |
| Loukas, YL | 1 |
| Dotsikas, Y | 1 |
| Biti, S | 1 |
| Papadopoulos, K | 1 |
| Doulgerakis, E | 1 |
| Furui, M | 1 |
| Takahashi, T | 1 |
| Taketani, T | 1 |
| Stride, N | 1 |
| Larsen, S | 1 |
| Hey-Mogensen, M | 1 |
| Sander, K | 1 |
| Lund, JT | 1 |
| Gustafsson, F | 1 |
| Køber, L | 1 |
| Dela, F | 1 |
| Marcovina, SM | 1 |
| Sirtori, C | 1 |
| Peracino, A | 1 |
| Gheorghiade, M | 1 |
| Borum, P | 1 |
| Remuzzi, G | 1 |
| Ardehali, H | 1 |
| Al-Thihli, K | 1 |
| Sinclair, G | 1 |
| Sirrs, S | 1 |
| Mezei, M | 1 |
| Nelson, J | 1 |
| Vallance, H | 1 |
| Violante, S | 1 |
| Frye, RE | 1 |
| Melnyk, S | 1 |
| Macfabe, DF | 1 |
| Matsumoto, I | 1 |
| Naylor, E | 1 |
| Liammongkolkul, S | 1 |
| Walker, UA | 1 |
| Gargus, JJ | 1 |
| Boyle, K | 1 |
| Bocian, M | 1 |
| Roe, DS | 1 |
| Janssen, AJ | 1 |
| Trijbels, FJ | 1 |
| Sengers, RC | 1 |
| Wintjes, LT | 1 |
| Ruitenbeek, W | 1 |
| Smeitink, JA | 1 |
| Morava, E | 1 |
| van Engelen, BG | 1 |
| van den Heuvel, LP | 1 |
| Rodenburg, RJ | 1 |
| Aledo, R | 1 |
| Mir, C | 1 |
| Dalton, RN | 1 |
| Turner, C | 1 |
| Pié, J | 1 |
| Hegardt, FG | 1 |
| Casals, N | 1 |
| Champion, MP | 1 |
| Oglesbee, D | 1 |
| Freedenberg, D | 1 |
| Kramer, KA | 1 |
| Anderson, BD | 1 |
| Hahn, SH | 1 |
| Osorio, JH | 1 |
| Pourfarzam, M | 1 |
| Haas, RH | 1 |
| Falk, MJ | 1 |
| Saneto, RP | 1 |
| Wolf, NI | 1 |
| Darin, N | 1 |
| Cohen, BH | 1 |
| Naviaux, RK | 1 |
| Sim, KG | 1 |
| Carpenter, K | 1 |
| Hammond, J | 1 |
| Christodoulou, J | 1 |
| Wilcken, B | 1 |
| Kuroda, Y | 1 |
| Naito, E | 1 |
| Touda, Y | 1 |
| Kuwajima, M | 1 |
| Kimura, M | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Acute Nutritional Ketosis in VLCAD Deficiency: Testing the Metabolic Base for Therapeutic Use[NCT03531554] | 5 participants (Actual) | Interventional | 2016-04-01 | Completed | |||
| A Phase 2A/2B Placebo-controlled Randomised Clinical Trial to Test the Ability of Triheptanoin to Protect Primary Airway Epithelial Cells Obtained From Participants With Ataxia-telangiectasia Against Death Induced by Glucose Deprivation[NCT04513002] | Phase 2 | 30 participants (Actual) | Interventional | 2022-03-15 | Completed | ||
| A Chart Review to Evaluate the Safety and Efficacy of Magnetic EEG/ECG-Guided Resonance Therapy (MeRT) on Subjects With Autism Spectrum Disorder (ASD)[NCT02758496] | 141 participants (Actual) | Observational | 2016-04-30 | Completed | |||
| A Longitudinal Study on the Safety and Efficacy for Subjects With Autism Spectrum Disorder (ASD) Who Received Magnetic EEG/ECG-Guided Resonance Therapy (MeRT)[NCT02746445] | 11 participants (Actual) | Observational | 2016-04-30 | Completed | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
12 reviews available for carnitine and Mitochondrial Diseases
| Article | Year |
|---|---|
Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Carnitine O-Palmitoyltransferase; Congenital Bone Mar | 2022 |
Biomarkers for mitochondrial energy metabolism diseases.
Topics: Amino Acids; Biomarkers; Carnitine; Creatine Kinase; Energy Metabolism; Fibroblast Growth Factors; G | 2018 |
Analyzing Mitochondrial Dysfunction, Oxidative Stress, and Apoptosis: Potential Role of L-carnitine.
Topics: Animals; Apoptosis; Carnitine; Humans; Mitochondria; Mitochondrial Diseases; Oxidative Stress; React | 2019 |
Electron transfer mediators and other metabolites and cofactors in the treatment of mitochondrial dysfunction.
Topics: Acidosis, Lactic; Animals; Antioxidants; Carnitine; Creatine; Dietary Supplements; Electron Transpor | 2009 |
Intramuscular triacylglycerol and insulin resistance: guilty as charged or wrongly accused?
Topics: Animals; Carnitine; Disease Models, Animal; Exercise; Humans; Insulin Resistance; Lipid Metabolism; | 2010 |
Translating the basic knowledge of mitochondrial functions to metabolic therapy: role of L-carnitine.
Topics: Carnitine; Energy Metabolism; Fatty Acids; Gene Expression Regulation; Genes, Mitochondrial; Homeost | 2013 |
[Inherited and acquired disorders of mitochondrial DNA].
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Anti-HIV Agents; Cardiomyopathies; Carnitine; Child; Dia | 2002 |
[Determination of normal acylcarnitine levels in a healthy pediatric population as a diagnostic tool in inherited errors of mitochondrial fatty acid beta-oxidation].
Topics: Adolescent; Carnitine; Child; Child, Preschool; Fatty Acids; Female; Humans; Infant; Lipid Metabolis | 2007 |
The in-depth evaluation of suspected mitochondrial disease.
Topics: Carnitine; Central Nervous System; Humans; Magnetic Resonance Imaging; Magnetic Resonance Spectrosco | 2008 |
[Drug therapy for mitochondrial diseases].
Topics: Carnitine; Coenzymes; Cytochrome c Group; Cytochromes c; Dichloroacetic Acid; Drug Combinations; Dru | 2002 |
[Primary carnitine deficiency].
Topics: Carnitine; Carrier Proteins; Diagnosis, Differential; Fatty Acids; Humans; Membrane Proteins; Mitoch | 2002 |
[Carnitine acylcarnitine translocase deficiency].
Topics: Carnitine; Carnitine Acyltransferases; Fatty Acids; Humans; Mitochondria; Mitochondrial Diseases; Mu | 2002 |
1 trial available for carnitine and Mitochondrial Diseases
| Article | Year |
|---|---|
Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency.
Topics: Adolescent; Adult; Beverages; Blood Glucose; Carnitine; Congenital Bone Marrow Failure Syndromes; Cr | 2020 |
63 other studies available for carnitine and Mitochondrial Diseases
| Article | Year |
|---|---|
3-Methylglutaconic aciduria in carriers of primary carnitine deficiency.
Topics: Adult; Cardiomyopathies; Carnitine; Female; Heterozygote; Humans; Hyperammonemia; Infant; Infant, Ne | 2021 |
Cardiologic evaluation of Turkish mitochondrial fatty acid oxidation disorders.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Cardiomyopathies; Carnitine; Child; Fatt | 2022 |
Oxidative damage in mitochondrial fatty acids oxidation disorders patients and the in vitro effect of l-carnitine on DNA damage induced by the accumulated metabolites.
Topics: Carnitine; DNA Damage; Fatty Acids; Female; Humans; Male; Mitochondrial Diseases; Oxidation-Reductio | 2020 |
One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Asian People; Carnitine; China; Congenital Bone Marrow Failure S | 2020 |
Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Child; Child, Preschool; Congenital Bone Marrow Failu | 2020 |
Genetic characteristics and follow-up of patients with fatty acid β-oxidation disorders through expanded newborn screening in a Northern Chinese population.
Topics: Cardiomyopathies; Carnitine; Carnitine O-Palmitoyltransferase; China; Congenital Bone Marrow Failure | 2020 |
Molecular and clinical characteristics of very-long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Cardiomyopathies; Carnitine; Cohort Studies; Congenital Bone Mar | 2020 |
Newborn screening and genetic characteristics of patients with short- and very long-chain acyl-CoA dehydrogenase deficiencies.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; China; Congenital Bone Marrow Failure Syndromes; Huma | 2020 |
Carnitine induces autophagy and restores high-fat diet-induced mitochondrial dysfunction.
Topics: Animals; Autophagosomes; Autophagy; Carnitine; Diet, High-Fat; Glucose Intolerance; Insulin; Insulin | 2018 |
Maternal obesity and increased neonatal adiposity correspond with altered infant mesenchymal stem cell metabolism.
Topics: Adiposity; Amino Acids; Biomarkers; Carnitine; Colorado; Electron Transport; Energy Metabolism; Fatt | 2017 |
Propofol Related Infusion Syndrome: Ultrastructural Evidence for a Mitochondrial Disorder.
Topics: Carnitine; Craniotomy; Hematoma, Subdural, Intracranial; Humans; Infusions, Intravenous; Male; Micro | 2018 |
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?
Topics: Acids; Adolescent; Adult; Antiporters; Biomarkers; Carnitine; Case-Control Studies; Child; Child, Pr | 2018 |
Tissue acylcarnitine status in a mouse model of mitochondrial β-oxidation deficiency during metabolic decompensation due to influenza virus infection.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Animals; Cardiomyopathies; Carnitine; Congenital Bone Marrow Fai | 2018 |
Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile.
Topics: Adolescent; Carnitine; Codon, Terminator; Electron Transport Complex IV; Female; Frameshift Mutation | 2019 |
Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Amino Acid Metabolism, Inborn Errors; Ca | 2019 |
[Analysis of ACADVL gene variations among nine neonates with very long chain acyl-coA dehydrogenase deficiency].
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; China; Congenital Bone Marrow Failure Syndromes; Huma | 2019 |
Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Carnitine; Child; Child, Preschool; Congenital Bone | 2019 |
Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.
Topics: Acyl-CoA Dehydrogenase; Carnitine; Child; Child, Preschool; Developmental Disabilities; Fatty Acids; | 2013 |
The effect of valinomycin in fibroblasts from patients with fatty acid oxidation disorders.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Anti-Bacterial Agents; Carnitine; Cells, Cultured; Congenital Bo | 2013 |
ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Acyl-CoA Dehydrogenases; Carnitine; Catalysis; Cell Line; Congen | 2014 |
Mitochondrial dysfunction and chronic disease: treatment with natural supplements.
Topics: Carnitine; Dietary Supplements; Fatigue Syndrome, Chronic; Humans; Mitochondrial Diseases; NAD; Thio | 2014 |
Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Congenital Bone Marrow Failure Syndromes; Demography; | 2014 |
Pioglitazone treatment restores in vivo muscle oxidative capacity in a rat model of diabetes.
Topics: Animals; Biomarkers; Carnitine; Diabetes Mellitus, Type 2; Hypertriglyceridemia; Hypoglycemic Agents | 2015 |
Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response.
Topics: Bezafibrate; Carnitine; Carnitine Acyltransferases; Cells, Cultured; Child, Preschool; Fatal Outcome | 2015 |
Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: eight case reports, including one case of prenatal diagnosis.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Acyl-CoA Dehydrogenases; Amniotic Fluid; Ascorbic Acid; Asian Pe | 2015 |
Autism and intellectual disability associated with mitochondrial disease and hyperlactacidemia.
Topics: Carnitine; Child Development Disorders, Pervasive; Child, Preschool; Female; Folic Acid; Humans; Hyp | 2015 |
Strategies for correcting very long chain acyl-CoA dehydrogenase deficiency.
Topics: Acetylcysteine; Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Amino Acid Sequence; Car | 2015 |
A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Amino Acid Sequence; Base Sequence; Carnitine; Conge | 2015 |
Carnitine supplementation in high-fat diet-fed rats does not ameliorate lipid-induced skeletal muscle mitochondrial dysfunction in vivo.
Topics: Animals; Carnitine; Diet, High-Fat; Dietary Supplements; Lipid Metabolism; Lipids; Male; Mitochondri | 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.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Alleles; Carnitine; Computer Simulation; Congenital Bone Marrow | 2015 |
Anaplerotic treatment of long-chain fat oxidation disorders with triheptanoin: Review of 15 years Experience.
Topics: Administration, Oral; Adolescent; Adult; Carnitine; Child; Child, Preschool; Citric Acid; Fatty Acid | 2015 |
Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Carnitine; Child; Child, Preschool; Congenital Bone | 2016 |
The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Case-Control Studies; Congenital Bone Marrow Failure | 2016 |
[Clinical and laboratory studies on four Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria].
Topics: Amino Acid Metabolism, Inborn Errors; Asian People; Carnitine; Diagnosis, Differential; DNA Mutation | 2016 |
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Carnitine; Child; Child, Preschool; Congenital Bone | 2016 |
Mitochondrial function is altered in horse atypical myopathy.
Topics: Acer; Animal Feed; Animals; Carnitine; Europe; Female; Horse Diseases; Horses; Hypoglycins; Male; Mi | 2016 |
Mitochondrial disease patients' perception of dietary supplements' use.
Topics: Carnitine; Child; Dietary Supplements; Drug-Related Side Effects and Adverse Reactions; Female; Huma | 2016 |
Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Adult; Boston; Cardiomyopath | 2017 |
[New therapeutic approaches in mitochondrial fatty acid oxidation disorders].
Topics: Carnitine; Citric Acid Cycle; Fatty Acids; Humans; Mitochondrial Diseases; Mitochondrial Trifunction | 2008 |
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Adult; Biomarkers; Carnitine; Cells, Cultured; Child | 2009 |
Deuterated palmitate-driven acylcarnitine formation by whole-blood samples for a rapid diagnostic exploration of mitochondrial fatty acid oxidation disorders.
Topics: Acyl-CoA Dehydrogenases; Adult; Blood Specimen Collection; Carnitine; Case-Control Studies; Child; C | 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.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Bezafibrate; Carnitine; Cells, Cultured; | 2010 |
[Correlation between renal tubular dysfunction and serum carnitine deficiency in cases with valproate therapy].
Topics: Adult; Anticonvulsants; Carnitine; Child; Child, Preschool; Fanconi Syndrome; Female; Humans; Male; | 2009 |
Preeclampsia and HELLP syndrome: impaired mitochondrial function in umbilical endothelial cells.
Topics: Adult; Carnitine; Carnitine O-Palmitoyltransferase; Citrate (si)-Synthase; Electron Transport; Endot | 2010 |
Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Congenital Bone Marrow Failure Syndromes; Female; Gen | 2011 |
Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Canada | 2012 |
Hepatic and muscular effects of different dietary fat content in VLCAD deficient mice.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Animals; Carnitine; Congenital Bone Marrow Failure Syndromes; Di | 2011 |
Mouse studies to shape clinical trials for mitochondrial diseases: high fat diet in Harlequin mice.
Topics: Animals; Atrophy; Carnitine; Cattle; Cell Death; Cell Respiration; Cerebellum; Clinical Trials as To | 2011 |
Long-term correction of very long-chain acyl-coA dehydrogenase deficiency in mice using AAV9 gene therapy.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Animals; Carnitine; Congenital Bone Marrow Failure Syndromes; De | 2012 |
Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy.
Topics: Adenosine Triphosphate; Animals; Animals, Newborn; Blotting, Western; Cardiomyopathies; Carnitine; C | 2012 |
Metabolic autopsy with postmortem cultured fibroblasts in sudden unexpected death in infancy: diagnosis of mitochondrial respiratory chain disorders.
Topics: Autopsy; Carnitine; Cells, Cultured; Electron Transport; Enzyme Assays; Female; Fibroblasts; Humans; | 2012 |
Characterization of the molecular spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in a Greek newborns cohort: identification of a novel variant.
Topics: Acyl-CoA Dehydrogenase; Alleles; Base Sequence; Carnitine; Genetic Association Studies; Greece; Huma | 2012 |
Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay.
Topics: Bezafibrate; Carboxylic Acids; Carnitine; Cells, Cultured; Fatty Acids; Fibroblasts; Humans; Mitocho | 2012 |
Decreased mitochondrial oxidative phosphorylation capacity in the human heart with left ventricular systolic dysfunction.
Topics: Aged; Biopsy; Carnitine; Creatine; Creatine Kinase, Mitochondrial Form; Energy Metabolism; Fatty Aci | 2013 |
Performance of serum and dried blood spot acylcarnitine profiles for detection of fatty acid β-oxidation disorders in adult patients with rhabdomyolysis.
Topics: Adolescent; Adult; Biopsy; Carnitine; Carnitine O-Palmitoyltransferase; Dried Blood Spot Testing; Fa | 2014 |
Carnitine palmitoyltransferase 2 and carnitine/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitines.
Topics: Acyl-CoA Dehydrogenase; Carnitine; Carnitine Acyltransferases; Carnitine O-Palmitoyltransferase; Gen | 2013 |
Unique acyl-carnitine profiles are potential biomarkers for acquired mitochondrial disease in autism spectrum disorder.
Topics: Biomarkers; Carnitine; Child; Child Development Disorders, Pervasive; Cohort Studies; DNA, Mitochond | 2013 |
Unique acyl-carnitine profiles are potential biomarkers for acquired mitochondrial disease in autism spectrum disorder.
Topics: Biomarkers; Carnitine; Child; Child Development Disorders, Pervasive; Cohort Studies; DNA, Mitochond | 2013 |
Unique acyl-carnitine profiles are potential biomarkers for acquired mitochondrial disease in autism spectrum disorder.
Topics: Biomarkers; Carnitine; Child; Child Development Disorders, Pervasive; Cohort Studies; DNA, Mitochond | 2013 |
Unique acyl-carnitine profiles are potential biomarkers for acquired mitochondrial disease in autism spectrum disorder.
Topics: Biomarkers; Carnitine; Child; Child Development Disorders, Pervasive; Cohort Studies; DNA, Mitochond | 2013 |
Mitochondrial fatty acid oxidation disorders in Thai infants: a report of 3 cases.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Cardiomyopathy, Hypertrophic; Carnitine; Fatal Outcome; Fatty Acid | 2002 |
Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation.
Topics: Acidosis, Lactic; Acyl-CoA Dehydrogenase; Behavior; Bicarbonates; Carnitine; Cell Line; Fatty Acids; | 2003 |
Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology.
Topics: Adenosine Triphosphate; Adolescent; Adult; Biopsy; Carbon Radioisotopes; Carnitine; Child; Child, Pr | 2006 |
Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency.
Topics: Carnitine; DNA Mutational Analysis; Genotype; Heterozygote; Humans; Hydroxymethylglutaryl-CoA Syntha | 2006 |
Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis.
Topics: Acidosis, Lactic; Atrophy; Biopsy; Blotting, Western; Carnitine; Central Nervous System Cysts; Cereb | 2006 |
Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid beta-oxidation disorders.
Topics: Carnitine; Cells, Cultured; Fatty Acids; Fibroblasts; Humans; Mitochondria; Mitochondrial Diseases; | 2002 |