s-adenosylmethionine has been researched along with Lipid Metabolism, Inborn Error in 99 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 6 (6.06) | 18.2507 |
| 2000's | 27 (27.27) | 29.6817 |
| 2010's | 56 (56.57) | 24.3611 |
| 2020's | 10 (10.10) | 2.80 |
| Authors | Studies |
|---|---|
| Adam, T; Chrastina, P; Farolfi, M; Foltenová, H; Friedecký, D; Hanák, P; Honzík, T; Hrubá, E; Ješina, P; Kousal, B; Kožich, V; Pavlíková, M; Rücklová, K; Smolka, V; Vlášková, H; Zeman, J | 1 |
| Clinton Frazee, C; Garg, U; Heese, B; Scott, D | 1 |
| Hayashida, S; Isobe, N; Shiraishi, W; Tajima, G; Tateishi, T; Tsumura, M | 1 |
| Han, J; Ji, G; Lu, S; Song, X; Wu, H; Xie, Y | 1 |
| He, R; Huang, M; Kang, L; Li, X; Li, Y; Liu, Y; Ma, R; Men, J; Ren, J; Song, J; Yang, Y | 1 |
| 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, RCI | 1 |
| Birkler, RID; Corydon, TJ; Fernandez-Guerra, P; Gregersen, N; Hansen, J; Nochi, Z; Olsen, RKJ; Wibrand, F | 1 |
| de Sain-van der Velden, MGM; Ferdinandusse, S; Houtkooper, RH; Knottnerus, SJG; Pras-Raves, ML; Schielen, PCJI; van der Ham, M; Visser, G; Wijburg, FA | 1 |
| Belanger-Quintana, A; Bellusci, M; Bergua Martínez, A; Blanco Soto, P; Cambra Conejero, A; Cañedo Villarroya, E; Chumillas Calzada, S; García Silva, MT; Martín Rivada, Á; Martín-Hernández, E; Martínez Figueras, L; Martínez-Pardo Casanova, M; Moráis López, A; Ortiz Temprado, A; Palomino Pérez, L; Pedrón Giner, C; Pérez González, B; Quijada Fraile, P; Ruano, MLF; Ruiz-Salas, P; Stanescu, S; Ugarte, M | 1 |
| Aldehaimi, A; Almannai, M; Almontashiri, NAM; Peake, RWA | 1 |
| Dotsikas, Y; Loukas, YL; Manta-Vogli, PD; Schulpis, KH | 1 |
| Das, AM; Hofmann, AD; Illsinger, S; Janzen, N; Schmidt, G | 1 |
| Avbelj Stefanija, M; Battelino, T; Bertok, S; Debeljak, M; Groselj, U; Repic Lampret, B; Smon, A; Trebusak Podkrajsek, K; Zerjav Tansek, M | 1 |
| Behúlová, D; Böhmer, D; Chandoga, J; Dluholucký, S; Jungová, P; Knapková, M; Lisyová, J; Lysinová, M; Machková, M; Potočňáková, Ľ; Repiský, M; Šaligová, J | 1 |
| De Bernardis, NP; Divers, TJ; Pinn, TL; Southard, T; Valberg, S; Wakshlag, JJ | 1 |
| Cusmano-Ozog, K; McGuire, PJ; Tarasenko, TN | 1 |
| da Silva, JM; de Moura Coelho, D; Deon, M; Ribas, GS; Sitta, A; Vargas, CR; Wajner, M | 1 |
| Bosch, AM; de Vries, M; Derks, TGJ; Gozalbo, ER; Jager, EA; Kuijpers, MM; Mulder, MF; Schielen, PCJI; van Spronsen, FJ; Visser, G; Waterham, HR; Williams, M | 1 |
| Phowthongkum, P; Shotelersuk, V; Suphapeetiporn, K | 1 |
| Derks, TGJ; Heiner-Fokkema, MR; van der Ende, RM; van Rijt, WJ; van Spronsen, F; Volker-Touw, CML | 1 |
| Bueno, MA; Castiñeiras, DE; Cocho, JA; Couce, ML; Delgado-Pecellín, C; Diogo, L; Fraga, JM; García-Villoria, J; Leão-Teles, E; Martins, E; Ribes, A; Rocha, H; Sánchez-Pintos, P; Santos, H | 1 |
| Houten, SM; Ijlst, L; Koster, J; Tavares de Almeida, I; Te Brinke, H; Ventura, FV; Violante, S; Wanders, RJ | 1 |
| Abdenur, JE; Au, SM; Barshop, BA; Feuchtbaum, L; Harding, CO; Hermerath, C; Lorey, F; Merritt, JL; Sesser, DE; Thompson, JD; Vedal, S; Yu, A | 1 |
| Gao, X; Gu, X; Han, F; Han, L; Ji, W; Qiu, W; Wang, Y; Ye, J; Zhang, H | 1 |
| Berberich, SL; Jelliffe-Pawlowski, LL; Momany, AM; Murray, JC; Ryckman, KK; Smith, CJ | 1 |
| Ask, S; Gustafsson, J; Haglind, CB; Nordenström, A; Stenlid, MH; von Döbeln, U | 1 |
| Akiba, K; Aoyama, Y; Fukao, T; Goto, M; Hasegawa, Y; Hashimoto, T; Hori, T; Kuwayama, N; Morita, M; Moriyama, Y; Murayama, K; Ohtake, A; Shigematsu, Y; Usuda, N; Venkatesan, R; Wierenga, R | 1 |
| Bottu, J; De Meirleir, L; Ferdinandusse, S; Scalais, E; Wanders, RJ; Waterham, HR | 1 |
| Hagar, A; Hall, PL; Wittenauer, A | 1 |
| Aoyama, Y; Densupsoontorn, N; Fukao, T; Jirapinyo, P; Sathienkijkanchai, A; Vatanavicharn, N; Wasant, P; Yamada, K; Yamaguchi, S | 1 |
| Boneh, A; Morrisy, S; Pitt, J; Tal, G; Tzanakos, N | 1 |
| Bastin, J; Bennett, MJ; Chen, J; Doulias, PT; Ischiropoulos, H; Tenopoulou, M | 1 |
| Furuyama, H; Hisahara, S; Imai, T; Matsushita, T; Shigematsu, Y; Shimohama, S; Tajima, G | 1 |
| Adams, SH; Knotts, TA; McCoin, CS | 1 |
| 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, VW | 1 |
| Hoppel, CL; Ingalls, ST; Kerner, J; Minkler, PE; Stoll, MS | 1 |
| Brunengraber, H; Roe, CR | 1 |
| Burrage, LC; Elsea, SH; Graham, BH; Kennedy, AD; Miller, MJ; Sun, Q; Sutton, VR; Wong, LJ | 1 |
| Adams, SH; Gillingham, MB; Knotts, TA; Matern, D; McCoin, CS; Piccolo, BD; Vockley, J | 1 |
| Acquaviva-Bourdain, C; Attarian, S; Bassez, G; Béhin, A; Brivet, M; Eymard, B; Fouilhoux, A; Kaminsky, P; Labarre-Villa, A; Laforêt, P; Laquerrière, A; Pérard, L; Pouget, J; Rigal, O; Souvannanorath, S; Streichenberger, N; Vanhulle, C; Vianey-Saban, C | 1 |
| Arnold, GL; Berry, SA; Cameron, C; Edick, MJ; Hansen, J; Leslie, N; Mohsen, AW; Pena, LD; van Calcar, SC; Vockley, J; Walsh Vockley, C | 1 |
| Cai, R; Chen, DY; Huang, JW; Li, ZT; Tan, JQ; Yan, TZ | 1 |
| Bakker, BM; Bleeker, A; Derks, TG; Gerding, A; Groen, AK; Heiner, RM; Martines, AM; Niezen-Koning, KE; Permentier, H; Reijngoud, DJ; van Eunen, K; van Rijt, WJ; Volker-Touw, CM; Wolters, JC | 1 |
| Alam, S; Gupta, PK; Khanna, R; Rawat, D; Sarin, SK; Sharma, S; Sood, V | 1 |
| Hamilton-Craig, C; Marshall, GA; Mikli, JE; Nisbet, JC; Parsonage, WA | 1 |
| Hiramatsu, Y; Izumi, Y; Kaji, R; Matsui, N; Miyazaki, Y; Nodera, H; Takashima, H; Yamamoto, Y | 1 |
| Shaibani, A; Shchelochkov, O; Shinawi, M; Wong, LJ | 1 |
| Fukuda, S; Hasegawa, Y; Kobayashi, H; Li, H; Mushimoto, Y; Purevsuren, J; Yamaguchi, S | 2 |
| Acquaviva-Bourdain, C; Brivet, M; Eymard, B; Jardel, C; Laforêt, P; Lombès, A; Maillart, E; Rigal, O; Vianey-Saban, C | 1 |
| Bhagavan, NV; Ha, CE; Manoukian, AA; Seaver, LH | 1 |
| Busch, U; Fingerhut, R; Liebl, B; Maier, EM; Muntau, AC; Nennstiel-Ratzel, U; Olgemöller, B; Pongratz, J; Roscher, AA; Röschinger, W | 1 |
| Chang, YS; Jin, DK; Ki, CS; Kim, SR; Lee, SY; Park, HD; Park, WS | 1 |
| Matern, D; Smith, EH | 1 |
| Aucoin, S; Lepage, N | 1 |
| Baruteau, J; Bloom, MC; Broué, P; Levade, T; Mesli, S; Redonnet-Vernhet, I | 1 |
| Eskelin, PM; Laitinen, KA; Tyni, TA | 1 |
| Fukao, T; Hasegawa, Y; Hori, T; Kobayashi, H; Kondo, N; Takayanagi, M; Teramoto, T; Yamaguchi, S; Yasuno, T | 1 |
| Aagaard-Tillery, K; Mendez-Figueroa, H; Shaibani, A; Shchelochkov, OA; Shinawi, MS | 1 |
| Ki, CS; Kim, JW; Lee, DH; Lee, SY; Lee, YW; Park, HD; Woo, HI | 1 |
| Cho, SY; Choi, EW; Ji, S; Jin, DK; Kim, CH; Kim, SH; Kim, SJ; Ko, AR; Paik, KH; Park, HD; Park, SW; Sohn, YB; Yeau, S | 1 |
| Marble, M; McGoey, RR | 1 |
| Gillingham, MB; Hirschfeld, M; Koeller, DM; Lambert, WE; Lowe, S; Matern, D; Shoemaker, J | 1 |
| Chatterjee, R; Das, S; Guha, G; Hashmi, MA; Joardar, S | 1 |
| Primassin, S; Spiekerkoetter, U; Tucci, S | 1 |
| Akamizu, T; Ariyasu, H; Hosoda, H; Iwakura, H; Kangawa, K; Ohtake, A; Sakura, N; Shigematsu, Y; Tajima, G | 1 |
| Conlon, T; Cossette, T; Dungtao, F; Erger, K; Flotte, TR; Keeler, AM; Mueller, C; Shaffer, SA; Tang, Q; Walter, G; Zeng, H | 1 |
| Andresen, BS; Brandt, NJ; Bross, P; Christensen, E; Christensen, M; Gahrn, B; Gregersen, N; Hougaard, DM; Lund, AM; Nørgaard-Pedersen, B; Olpin, S; Simonsen, H; Skogstrand, K; Skovby, F; Vested, A | 1 |
| Cooks, RG; Manicke, NE; Ouyang, Z; Petucci, C; Wang, H; Yang, Q | 1 |
| Fukao, T; Fukuda, S; Hasegawa, Y; Kobayashi, H; Purevsuren, J; Takahashi, T; Takayanagi, M; Yamada, K; Yamaguchi, S | 1 |
| Al-Thihli, K; Mezei, M; Nelson, J; Sinclair, G; Sirrs, S; Vallance, H | 1 |
| Hoffmann, GF; Kohlmüller, D; Kölker, S; Lindner, M; Mayatepek, E; Okun, JG; Olgemöller, K; Schulze, A; Wanders, RJ | 1 |
| Burlingame, T; Connor, WE; Gillingham, MB; Harding, CO; Matern, D; Meeuws, K; Rinaldo, P | 1 |
| Chace, DH; Kalas, TA; Naylor, EW | 1 |
| Hoppel, CL; Kerner, J; Minkler, PE; North, KN | 1 |
| Duran, M; Ijlst, L; Mayatepek, E; Overmars, H; Spiekerkoetter, U; Strauss, AW; Tokunaga, C; van Vlies, N; Vaz, FM; Wanders, RJ; Wendel, U; Wijburg, FA | 1 |
| Andresen, BS; Bischoff, C; Bonham, JR; Chakrapani, A; Clark, S; Downing, M; Gregersen, N; Manning, NJ; Muntoni, F; Olpin, SE; Olsen, RK; Pourfarzam, M; Sharrard, M; Turnbull, DN | 1 |
| Browning, MF; Larson, C; Marsden, DL; Strauss, A | 1 |
| Blois, B; Dooley, K; Dyack, S; Riddell, C | 1 |
| Aubey, F; Bastin, J; Djouadi, F; Ruiter, JP; Schlemmer, D; Strauss, AW; Wanders, RJ | 1 |
| Roe, CR; Roe, DS; Struys, E; Sweetman, L; Vianey-Saban, C; Yang, BZ | 1 |
| Endo, M; Hasegawa, Y; Kobayashi, H; Purevsuren, J; Yamaguchi, S | 1 |
| Fok, TF; Ho, CS; Hui, J; Lam, CW; Law, LK; Ruiter, J; Tang, NL; Wanders, RJ | 1 |
| Garritson, B; Roe, CR; Roe, DS; Wallace, M | 1 |
| Osorio, JH; Pourfarzam, M | 1 |
| Gao, XL; Gu, XF; Han, LS; Qiu, WJ; Wang, Y; Ye, J; Zhang, YJ | 1 |
| Ito, T; Kato, I; Koyama, N; Kurono, Y; Maeda, Y; Nakajima, Y; Nomura, T; Sugiyama, N; Suzuki, S; Togari, H; Ueta, A; Yokoi, K | 1 |
| Mayatepek, E; Primassin, S; Spiekerkoetter, U; Ter Veld, F | 1 |
| Allers, P; Costa, CG; Duran, M; Ijlst, L; Jakobs, C; Ruiter, J; Struys, EA; Tavares de Almeida, I; Ventura, FV; Wanders, RJ | 1 |
| al Aqeel, AI; Rashed, MS; Wanders, RJ | 1 |
| Bootsma, AH; Overmars, H; van Gennip, AH; van Lint, AE; Vreken, P; Wanders, RJ | 2 |
| Gibson, B; Hahn, SH; Hong, CH; Jung, JW; Lee, EH; Rinaldo, P; Sims, H; Strauss, AW; Yoon, HR | 1 |
| Abdenur, JE; Bernard, CI; Chamoles, NA; Guinle, A; Jorge, L; Lavorgna, S; Levandowskiy, V; Schenone, AB; Specola, N | 1 |
| de Hoffmann, E; Libert, R; Nassogne, MC; Schanck, A; Thillaye, M; Van Hoof, F; Vincent, MF | 1 |
| Andresen, BS; Korall, H; Schwahn, B; Spiekerkötter, U; Trefz, FK; Wendel, U | 1 |
| Abdenur, JE; Bernard, C; Chamoles, NA; Fusta, M; Guinle, A; Jorge, L; Lavorgna, S; Levandovskiy, V; Schenone, AB | 1 |
| Roe, CR; Roe, DS; Sharma, S; Vianey-Saban, C; Zabot, MT | 1 |
| Cox, KB; Hamm, DA; Lindsey, JR; Matern, D; Millington, DS; Pinkert, CA; Rhead, WJ; Rinaldo, P; Vockley, J; Wood, PA | 1 |
3 review(s) available for s-adenosylmethionine and Lipid Metabolism, Inborn Error
| Article | Year |
|---|---|
Acylcarnitines--old actors auditioning for new roles in metabolic physiology.
Topics: Carnitine; Humans; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Metabolic Diseases; Metabolic Networks and Pathways; Metabolism | 2015 |
Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns.
Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Specimen Collection; Carnitine; Hematologic Tests; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Mass Spectrometry | 2003 |
[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 Metabolism, Inborn Errors; Male; Mitochondrial Diseases; Oxidation-Reduction; Reference Values | 2007 |
3 trial(s) available for s-adenosylmethionine and Lipid Metabolism, Inborn Error
| 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; 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 |
Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant.
Topics: Alaska; American Indian or Alaska Native; Body Mass Index; Carnitine; Carnitine O-Palmitoyltransferase; Child, Preschool; Fatty Acids, Nonesterified; Gas Chromatography-Mass Spectrometry; Homozygote; Humans; Hypoglycemia; Ketones; Lipid Metabolism, Inborn Errors; Polymorphism, Single Nucleotide; Tandem Mass Spectrometry | 2011 |
Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Carnitine; Child; Child, Preschool; Diet Therapy; Energy Intake; Fatty Acids; Female; Humans; Infant; Lipid Metabolism, Inborn Errors; Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase; Male; Minerals; Multienzyme Complexes; Treatment Outcome; Vitamins | 2003 |
93 other study(ies) available for s-adenosylmethionine and Lipid Metabolism, Inborn Error
| Article | Year |
|---|---|
Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acyl-CoA Dehydrogenase; Cardiomyopathies; Carnitine; Child; Child, Preschool; Czech Republic; Female; Humans; Incidence; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Metabolism, Inborn Errors; Mitochondrial Myopathies; Mitochondrial Trifunctional Protein; Neonatal Screening; Nervous System Diseases; Outcome Assessment, Health Care; Retrospective Studies; Rhabdomyolysis; Severity of Illness Index | 2021 |
Tandem Mass Spectrometry for the Analysis of Plasma/Serum Acylcarnitines for the Diagnosis of Certain Organic Acidurias and Fatty Acid Oxidation Disorders.
Topics: Carnitine; Carnitine Acyltransferases; Fatty Acids; Humans; Lipid Metabolism, Inborn Errors; Tandem Mass Spectrometry | 2022 |
[A case of very long chain acyl-CoA dehydrogenase deficiency diagnosed due to a trigger of hyperemesis gravidarum during pregnancy].
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adult; Carnitine; Fatty Acids; Female; Humans; Hyperemesis Gravidarum; Infant, Newborn; Lipid Metabolism, Inborn Errors; Pregnancy; Rhabdomyolysis | 2023 |
Adolescent Hyperuricemia with Lipid Storage Myopathy: A Clinical Study.
Topics: Adolescent; Adult; Carnitine; Child; China; Electron-Transferring Flavoproteins; Female; Humans; Hyperuricemia; Iron-Sulfur Proteins; Lipid Metabolism, Inborn Errors; Male; Muscle Weakness; Muscle, Skeletal; Muscular Diseases; Muscular Dystrophies; Oxidoreductases Acting on CH-NH Group Donors; Quality of Life; Riboflavin; Young Adult | 2019 |
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 Syndromes; Female; Humans; Hypoglycemia; Infant, Newborn; Lipid Metabolism, Inborn Errors; Liver Diseases; Male; Mitochondrial Diseases; Muscular Diseases; Mutation | 2020 |
Increased antioxidant response in medium-chain acyl-CoA dehydrogenase deficiency: does lipoic acid have a protective role?
Topics: Acyl-CoA Dehydrogenase; Antioxidants; Caprylates; Carnitine; Cell Death; Fibroblasts; Genotype; Glycolysis; Humans; Lipid Metabolism, Inborn Errors; Lipid Peroxidation; Mitochondria; Oxidative Stress; Phenotype; Superoxides; Thioctic Acid | 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 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 |
[Newborn Screening Program in the Community of Madrid: evaluation of positive cases.]
Topics: Acyl-CoA Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Carnitine; Cities; Female; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Neonatal Screening; Predictive Value of Tests; Prevalence; Spain; Tandem Mass Spectrometry | 2020 |
Hyperammonemia, Lactic Acidosis, and Arrhythmia in a Newborn.
Topics: Acidosis, Lactic; Arrhythmias, Cardiac; Carnitine; Female; Humans; Hyperammonemia; Infant, Newborn; Lipid Metabolism, Inborn Errors; Membrane Transport Proteins; Mutation | 2021 |
Quantitation and evaluation of perinatal medium-chain and long-chain acylcarnitine blood concentrations in 12,000 full-term breastfed newborns.
Topics: Biomarkers; Birth Weight; Breast Feeding; Carnitine; Female; Follow-Up Studies; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Neonatal Screening; Prognosis | 2021 |
Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis.
Topics: Acyl-CoA Dehydrogenase; Adolescent; Analysis of Variance; Carnitine; Child; Child, Preschool; Fatty Acids; Female; Humans; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Neonatal Screening; Palmitates; Reproducibility of Results; Tandem Mass Spectrometry | 2017 |
Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening.
Topics: Acyl-CoA Dehydrogenase; Carboxylic Acids; Carnitine; Dried Blood Spot Testing; Female; Humans; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Mutation; Neonatal Screening; Retrospective Studies | 2018 |
An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia.
Topics: Acyl-CoA Dehydrogenase; Butyryl-CoA Dehydrogenase; Carnitine; Ethnicity; Female; Gene Frequency; Genetic Testing; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Mutation; Neonatal Screening; Polymorphism, Restriction Fragment Length; Sequence Analysis, DNA; Slovakia | 2018 |
Persistent hypoglycemia associated with lipid storage myopathy in a paint foal.
Topics: Animals; Carnitine; Diagnosis, Differential; Fatal Outcome; Female; Horse Diseases; Horses; Hypoglycemia; Lipid Metabolism, Inborn Errors; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Muscular Dystrophies | 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 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 |
Selective Screening of Fatty Acids Oxidation Defects and Organic Acidemias by Liquid Chromatography/tandem Mass Spectrometry Acylcarnitine Analysis in Brazilian Patients.
Topics: Acyl-CoA Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic; Brazil; Carnitine; Child, Preschool; Chromatography, Liquid; Fatty Acids; Female; Glutarates; Glutaryl-CoA Dehydrogenase; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Mass Screening; Oxidation-Reduction; Prevalence; Tandem Mass Spectrometry; Young Adult | 2018 |
A nationwide retrospective observational study of population newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in the Netherlands.
Topics: Acyl-CoA Dehydrogenase; Carnitine; Female; Genotype; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Neonatal Screening; Netherlands; Prevalence; Retrospective Studies | 2019 |
Carnitine palmitoyl transferase 1A deficiency in an adult with recurrent severe steato hepatitis aggravated by high pathologic or physiologic demands: A roller-coaster for internists.
Topics: Adult; Anti-Bacterial Agents; Carnitine; Carnitine O-Palmitoyltransferase; Escherichia coli Infections; Humans; Hypoglycemia; Lipid Metabolism, Inborn Errors; Liver; Male; Mutation, Missense; Non-alcoholic Fatty Liver Disease; Recurrence; Severity of Illness Index | 2019 |
Changes in pediatric plasma acylcarnitines upon fasting for refined interpretation of metabolic stress.
Topics: Blood Glucose; Carnitine; Child; Child, Preschool; Fasting; Female; Homeostasis; Humans; Hypoglycemia; Infant; Lipid Metabolism, Inborn Errors; Male; Retrospective Studies; Stress, Physiological | 2019 |
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.
Topics: Acyl-CoA Dehydrogenase; Cardiomyopathies; Carnitine; Dietary Supplements; Female; Genetic Association Studies; Genotype; Homozygote; Humans; Hyperammonemia; Incidence; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Muscular Diseases; Neonatal Screening; Phenotype; Prevalence; Spain; Vitamin B Complex | 2013 |
Peroxisomes contribute to the acylcarnitine production when the carnitine shuttle is deficient.
Topics: Carnitine; Carnitine Acyltransferases; Carnitine O-Palmitoyltransferase; Cells, Cultured; Fibroblasts; Fluorescent Antibody Technique; Humans; Lauric Acids; Lipid Metabolism, Inborn Errors; Oxidation-Reduction; Peroxisomes; Skin | 2013 |
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; 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 |
Spectrum analysis of common inherited metabolic diseases in Chinese patients screened and diagnosed by tandem mass spectrometry.
Topics: Acyl-CoA Dehydrogenase; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carboxylic Acids; Carnitine; Child; Child, Preschool; China; Fatty Acids; Female; Humans; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Metabolic Diseases; Middle Aged; Oxidation-Reduction; Phenylketonurias; Tandem Mass Spectrometry | 2015 |
Metabolic heritability at birth: implications for chronic disease research.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Adult; Carnitine; Chronic Disease; Female; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Metabolism, Inborn Errors; Organic Cation Transport Proteins; Symporters; Tandem Mass Spectrometry | 2014 |
Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Age Factors; Biomarkers; Blood Glucose; Calorimetry, Indirect; Cardiomyopathies; Carnitine; Child; Child, Preschool; Energy Metabolism; Fasting; Female; Glycerol; Humans; Hyperglycemia; Isotope Labeling; Lipid Metabolism, Inborn Errors; Lipolysis; Male; Microdialysis; Mitochondrial Myopathies; Mitochondrial Trifunctional Protein; Nervous System Diseases; Postprandial Period; Rhabdomyolysis; Time Factors | 2015 |
The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acetyl-CoA C-Acetyltransferase; Base Sequence; Carnitine; Child; Diagnosis, Differential; DNA Mutational Analysis; Dyskinesias; Fibroblasts; Glycine; Humans; Hydroxybutyrates; Immunoblotting; Lipid Metabolism, Inborn Errors; Male; Mental Retardation, X-Linked; Mitochondria; Models, Molecular; Point Mutation; Protein Structure, Tertiary | 2014 |
Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Child; Family; Female; Fibroblasts; Humans; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors; Lymphocytes; Male; Oxidation-Reduction; Palmitates; Perinatal Death; Siblings; Sudden Infant Death; Survival Analysis | 2015 |
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: performance improvement by monitoring a new ratio.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Biomarkers; Carnitine; False Positive Reactions; Heterozygote; Humans; Infant; Infant, Newborn; Infant, Very Low Birth Weight; Lipid Metabolism, Inborn Errors; Neonatal Screening; United States | 2014 |
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; 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 |
An audit of newborn screening procedure: impact on infants presenting clinically before results are available.
Topics: Amino Acid Metabolism, Inborn Errors; Australia; Carnitine; Female; Health Personnel; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Medical Audit; Neonatal Screening; Retrospective Studies; Tandem Mass Spectrometry; Time Factors | 2015 |
Strategies for correcting very long chain acyl-CoA dehydrogenase deficiency.
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.
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 |
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 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 |
Quantitative acylcarnitine determination by UHPLC-MS/MS--Going beyond tandem MS acylcarnitine "profiles".
Topics: Acetyl-CoA C-Acyltransferase; Acyl-CoA Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Betaine; Carbon-Carbon Ligases; Carnitine; Chromatography, High Pressure Liquid; Female; Humans; Infant, Newborn; Isomerism; Lipid Metabolism, Inborn Errors; Male; Neonatal Screening; Reproducibility of Results; Sensitivity and Specificity; Tandem Mass Spectrometry; Urea Cycle Disorders, Inborn | 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 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.
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 |
Unique plasma metabolomic signatures of individuals with inherited disorders of long-chain fatty acid oxidation.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Carnitine; Carnitine O-Palmitoyltransferase; Case-Control Studies; Ceramides; Fatty Acids; Female; Humans; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Male; Metabolic Networks and Pathways; Metabolism, Inborn Errors; Oxidation-Reduction; Phosphatidylcholines; Phosphatidylethanolamines; Plasma; Sphingomyelins; Triglycerides | 2016 |
Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.
Topics: Adult; Age of Onset; Biopsy; Carnitine; Electromyography; Electron-Transferring Flavoproteins; Exercise; Female; France; Humans; Iron-Sulfur Proteins; Lipid Metabolism, Inborn Errors; Male; Middle Aged; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Muscle, Skeletal; Mutation; Neuromuscular Diseases; Oxidation-Reduction; Oxidoreductases Acting on CH-NH Group Donors; Rhabdomyolysis; Young Adult | 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 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 |
[An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency].
Topics: Acyl-CoA Dehydrogenase; Carnitine; Female; Humans; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Mutation; Urea | 2016 |
Living on the edge: substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders.
Topics: Acyl-CoA Dehydrogenase; Animals; Carnitine; Computational Biology; Computer Simulation; Disease Models, Animal; Fatty Acids; Humans; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Male; Metabolic Networks and Pathways; Mice; Mice, Inbred C57BL; Mice, Knockout; Mitochondria; Oxidation-Reduction; Proteomics; Substrate Specificity | 2016 |
Study of Carnitine/Acylcarnitine and Amino Acid Profile in Children and Adults With Acute Liver Failure.
Topics: Adolescent; Adult; Amino Acids; Biomarkers; Carnitine; Carnitine O-Palmitoyltransferase; Child; Child, Preschool; Female; Follow-Up Studies; Humans; Hypoglycemia; Infant; Lipid Metabolism, Inborn Errors; Liver Failure, Acute; Liver Transplantation; Male; Patient Acuity; Prospective Studies | 2017 |
A 61-Year-Old Woman with Muscle Fatigue and Increased Cardiac Troponin.
Topics: Carnitine; Creatine Kinase; Female; Humans; Lipid Metabolism, Inborn Errors; Middle Aged; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Muscle Fatigue; Muscle, Skeletal; Muscular Dystrophies; Necrosis; Troponin I; Troponin T | 2017 |
Mitochondrial trifunctional protein deficiency: an adult patient with similar progress to Charcot-Marie-Tooth disease.
Topics: Biomarkers; Cardiomyopathies; Carnitine; Charcot-Marie-Tooth Disease; Diagnosis, Differential; Disease Progression; Genetic Testing; Humans; Lipid Metabolism, Inborn Errors; Male; Middle Aged; Mitochondrial Myopathies; Mitochondrial Trifunctional Protein; Mitochondrial Trifunctional Protein, beta Subunit; Mutation; Nervous System Diseases; Peripheral Nervous System Diseases; Recurrence; Rhabdomyolysis | 2017 |
Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Calcium Channel Blockers; Carnitine; DNA Mutational Analysis; Female; Humans; Lamotrigine; Lipid Metabolism, Inborn Errors; Muscle, Skeletal; Mutation; Succinate Dehydrogenase; Triazines; Young Adult | 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; Child; Fatty Acids; Fibroblasts; Hot Temperature; Humans; Hypolipidemic Agents; Lipid Metabolism, Inborn Errors; Mitochondria; Mitochondrial Diseases; Oxidation-Reduction; Stress, Physiological | 2010 |
[Multiple acyl-CoA dehydrogenase deficiency (MADD): a curable cause of genetic muscular lipidosis].
Topics: Acyl-CoA Dehydrogenases; Adult; Biopsy; Brain Diseases, Metabolic; Carnitine; Coloring Agents; DNA Mutational Analysis; Electron Transport; Electron-Transferring Flavoproteins; Female; Humans; Lipid Metabolism, Inborn Errors; Lipidoses; Male; Middle Aged; Muscle Weakness; Muscle, Skeletal; Riboflavin; Tandem Mass Spectrometry; Young Adult | 2010 |
A neonatal death due to medium-chain acyl-CoA dehydrogenase deficiency: utilization of the neonatal metabolic screen in a functional approach to sudden unexplained infant death.
Topics: Acyl-CoA Dehydrogenase; Carnitine; Gene Deletion; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Neonatal Screening; Point Mutation; Sudden Infant Death | 2009 |
Dissection of biochemical borderline phenotypes in carriers and genetic variants of medium-chain acyl-CoA dehyrogenase deficiency: implications for newborn screening [corrected].
Topics: Carnitine; Case-Control Studies; Heterozygote; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Mutation; Neonatal Screening | 2009 |
Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Cardiomyopathies; Carnitine; DNA Mutational Analysis; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Mitochondria; Mitochondrial Myopathies; Mitochondrial Proteins; Mitochondrial Trifunctional Protein; Mitochondrial Trifunctional Protein, beta Subunit; Multienzyme Complexes; Mutation; Nervous System Diseases; Peripheral Nervous System Diseases; Republic of Korea; Retinitis Pigmentosa; Rhabdomyolysis | 2009 |
Acylcarnitine analysis by tandem mass spectrometry.
Topics: Carnitine; Flow Injection Analysis; Humans; Lipid Metabolism, Inborn Errors; Spectrometry, Mass, Electrospray Ionization; Tandem Mass Spectrometry | 2010 |
Measurement of plasma/serum acylcarnitines using tandem mass spectrometry.
Topics: Carnitine; Humans; Lipid Metabolism, Inborn Errors; Pediatrics; Spectrometry, Mass, Electrospray Ionization; Tandem Mass Spectrometry | 2010 |
Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders.
Topics: Adolescent; Carnitine; Child; Fatty Acids; Female; Fibroblasts; Heat Stress Disorders; Humans; Lipid Metabolism, Inborn Errors; Male; Mitochondria; Oxidation-Reduction; Tandem Mass Spectrometry | 2010 |
Hypoketotic hypoglycemia with myolysis and hypoparathyroidism: an unusual association in medium chain acyl-CoA desydrogenase deficiency (MCADD).
Topics: Acute Kidney Injury; Acyl-CoA Dehydrogenase; Carnitine; Child, Preschool; Female; Glucose; Humans; Hypoglycemia; Hypoparathyroidism; Ketones; Lipid Metabolism, Inborn Errors; Mutation, Missense; Vitamin B Complex | 2009 |
Elevated hydroxyacylcarnitines in a carrier of LCHAD deficiency during acute liver disease of pregnancy - a common feature of the pregnancy complication?
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acute Disease; Adult; Carnitine; Fatty Liver; Female; Humans; Lipid Metabolism, Inborn Errors; Liver Diseases; Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase; Mitochondrial Trifunctional Protein; Multienzyme Complexes; Pregnancy; Pregnancy Complications; Pregnancy Trimester, Third | 2010 |
Carnitine palmitoyltransferase 2 deficiency: the time-course of blood and urinary acylcarnitine levels during initial L-carnitine supplementation.
Topics: Acetylcarnitine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Chemical Analysis; Carnitine; Carnitine O-Palmitoyltransferase; Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Lipid Metabolism, Inborn Errors; Reye Syndrome; Time Factors; Treatment Outcome; Vitamin B Complex | 2010 |
Clinical and biochemical improvement of very long-chain acyl-CoA dehydrogenase deficiency in pregnancy.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Female; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Pregnancy; Pregnancy Complications; Prenatal Care; Rhabdomyolysis; Term Birth; Young Adult | 2010 |
Clinical, biochemical and genetic analyses in two Korean patients with medium-chain acyl-CoA dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenase; Asian People; Base Sequence; Biomarkers; Carnitine; DNA Mutational Analysis; Exons; Female; Gene Deletion; Heterozygote; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Mutation; Neonatal Screening; Republic of Korea; Tandem Mass Spectrometry | 2011 |
Mutations of ACADS gene associated with short-chain acyl-coenzyme A dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenase; Base Sequence; Carnitine; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; Homozygote; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Molecular Sequence Data; Mutation | 2011 |
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; Genotype; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Metabolism, Inborn Errors; Mitochondrial Diseases; Mothers; Muscular Diseases; Neonatal Screening; Phenotype | 2011 |
Rare magnetic resonance imaging findings in medium-chain acyl-coenzyme A dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenase; Anticonvulsants; Basal Ganglia; Brain; Brain Ischemia; Carnitine; Cerebral Infarction; Child, Preschool; Glasgow Coma Scale; Humans; Lipid Metabolism, Inborn Errors; Liver Function Tests; Magnetic Resonance Imaging; Male; Respiration, Artificial; Seizures; Valproic Acid | 2011 |
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; 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 |
Analysis of plasma ghrelin in patients with medium-chain acyl-CoA dehydrogenase deficiency and glutaric aciduria type II.
Topics: Acyl-CoA Dehydrogenase; Adult; Blood Chemical Analysis; Carnitine; Case-Control Studies; Child; Child, Preschool; Chromatography, High Pressure Liquid; Female; Ghrelin; Humans; Lipid Metabolism, Inborn Errors; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Protein Processing, Post-Translational; Young Adult | 2012 |
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; 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 |
MCAD deficiency in Denmark.
Topics: Acyl-CoA Dehydrogenase; Alleles; Base Sequence; Carnitine; Denmark; Family; Female; Genetic Association Studies; Genotype; Humans; Incidence; Infant; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Mutation; Neonatal Screening; Phenotype; Tandem Mass Spectrometry | 2012 |
Direct and quantitative analysis of underivatized acylcarnitines in serum and whole blood using paper spray mass spectrometry.
Topics: Carnitine; Dried Blood Spot Testing; Humans; Infant, Newborn; Limit of Detection; Lipid Metabolism, Inborn Errors; Mass Spectrometry; Reproducibility of Results; Time Factors | 2012 |
Intracellular in vitro probe acylcarnitine assay for identifying deficiencies of carnitine transporter and carnitine palmitoyltransferase-1.
Topics: Biological Transport; Cardiomyopathies; Carnitine; Carnitine Acyltransferases; Carnitine O-Palmitoyltransferase; Cells, Cultured; Fatty Acids; Fibroblasts; Humans; Hyperammonemia; Hypoglycemia; Lipid Metabolism, Inborn Errors; Mitochondria; Muscular Diseases; Oxidation-Reduction; Spectrometry, Mass, Electrospray Ionization; Tandem Mass Spectrometry | 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; Fatty Acids; Female; Humans; Lipid Metabolism, Inborn Errors; Male; Middle Aged; Mitochondrial Diseases; Oxidation-Reduction; Retrospective Studies; Rhabdomyolysis; Young Adult | 2014 |
A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Carnitine; Cells, Cultured; Fibroblasts; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Mitochondria; Palmitic Acid; Phenotype; Sensitivity and Specificity; Skin; Spectrometry, Mass, Electrospray Ionization | 2002 |
Quantitation of long-chain acylcarnitines by HPLC/fluorescence detection: application to plasma and tissue specimens from patients with carnitine palmitoyltransferase-II deficiency.
Topics: Carnitine; Carnitine O-Palmitoyltransferase; Chromatography, High Pressure Liquid; Humans; Lipid Metabolism, Inborn Errors; Sensitivity and Specificity; Spectrometry, Fluorescence | 2005 |
Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Animals; Bile; Carnitine; Disease Models, Animal; Homeostasis; Humans; Lipid Metabolism, Inborn Errors; Liver; Mice; Mice, Knockout; Muscle, Skeletal; Phenotype | 2005 |
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Cardiomyopathies; Carnitine; Exons; Fatty Acids; Fibroblasts; Homozygote; Humans; Lipid Metabolism, Inborn Errors; Male; Mitochondria; Mitochondrial Trifunctional Protein; Multienzyme Complexes; Mutation; Phenotype; Polyneuropathies; Prognosis; Rhabdomyolysis | 2005 |
Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Genotype; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Male; Mass Spectrometry; Mitochondrial Trifunctional Protein; Multienzyme Complexes; Mutation; Neonatal Screening; Oxygen; Time Factors | 2005 |
Newborns with C8-acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation.
Topics: Acyl-CoA Dehydrogenase; Alleles; Carnitine; DNA Mutational Analysis; Fatty Acids; Heterozygote; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Mass Spectrometry; Mutation; Neonatal Screening; Oxygen; Spectrometry, Mass, Electrospray Ionization | 2005 |
Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Bezafibrate; Blotting, Western; Carnitine; DNA Primers; Dose-Response Relationship, Drug; Fibroblasts; Gene Expression Regulation, Enzymologic; Humans; Lipid Metabolism, Inborn Errors; Mitochondria; Mutation, Missense; Palmitates; Peroxisome Proliferator-Activated Receptors; Reverse Transcriptase Polymerase Chain Reaction; RNA, Messenger | 2005 |
Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts.
Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acetyl-CoA C-Acyltransferase; Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Carbon-Carbon Double Bond Isomerases; Carnitine; Cells, Cultured; Clinical Enzyme Tests; Diagnosis, Differential; DNA, Complementary; Enoyl-CoA Hydratase; Fatty Acids; Fibroblasts; Genetic Testing; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Mitochondrial Trifunctional Protein; Multienzyme Complexes; Oxidation-Reduction; Racemases and Epimerases | 2006 |
ESI-MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders.
Topics: Carnitine; Fatty Acids; Humans; Infant; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Methylmalonic Acid; Oxidation-Reduction; Propionates; Spectrometry, Mass, Electrospray Ionization; Tandem Mass Spectrometry | 2007 |
A novel functional assay for simultaneous determination of total fatty acid beta-oxidation flux and acylcarnitine profiling in human skin fibroblasts using (2)H(31)-palmitate by isotope ratio mass spectrometry and electrospray tandem mass spectrometry.
Topics: Carnitine; Cell Line; Deuterium; Fatty Acids; Fibroblasts; Humans; Lipid Metabolism, Inborn Errors; Mitochondria; Multienzyme Complexes; Oxidation-Reduction; Palmitates; Skin; Spectrometry, Mass, Electrospray Ionization; Tandem Mass Spectrometry | 2007 |
Choice of oils for essential fat supplements can enhance production of abnormal metabolites in fat oxidation disorders.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Carnitine; Cell Line; Diet Therapy; Dietary Fats; Energy Intake; Fibroblasts; Lipid Metabolism, Inborn Errors; Multienzyme Complexes; Oils; Oxidation-Reduction; Polyneuropathies | 2007 |
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders].
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Male; Mass Spectrometry; Tandem Mass Spectrometry | 2007 |
Acylcarnitine profiles during carnitine loading and fasting tests in a Japanese patient with medium-chain acyl-CoA dehydrogenase deficiency.
Topics: Acyl-CoA Dehydrogenase; Asian People; Blood Glucose; Carnitine; Child; Child, Preschool; Diagnostic Tests, Routine; DNA Mutational Analysis; Fasting; Female; Humans; Japan; Lipid Metabolism, Inborn Errors | 2007 |
Carnitine supplementation induces acylcarnitine production in tissues of very long-chain acyl-CoA dehydrogenase-deficient mice, without replenishing low free carnitine.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Animals; Betaine; Carnitine; Cell Line, Tumor; Cell Proliferation; Cell Survival; Dietary Supplements; Humans; Lipid Metabolism, Inborn Errors; Liver; Mice; Mice, Knockout; Muscle, Skeletal; Palmitoyl Coenzyme A; Palmitoylcarnitine; Physical Exertion; Time Factors | 2008 |
Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects.
Topics: Carbon Isotopes; Carnitine; Cells, Cultured; Fatty Acids; Fibroblasts; Gas Chromatography-Mass Spectrometry; Humans; Lipid Metabolism, Inborn Errors; Oxidation-Reduction; Palmitic Acid; Spectrometry, Mass, Fast Atom Bombardment | 1999 |
Carnitine-acylcarnitine translocase deficiency is a treatable disease.
Topics: Acetylcarnitine; Carnitine; Carnitine Acyltransferases; Female; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Palmitoylcarnitine; Treatment Outcome | 1999 |
Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects.
Topics: Carnitine; Child; Child, Preschool; Fatty Acids; Humans; Infant; Lipid Metabolism, Inborn Errors; Mass Spectrometry; Oxidation-Reduction | 1999 |
Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Arginine; Cardiomyopathies; Carnitine; Codon, Terminator; Fatal Outcome; Fatty Acid Desaturases; Genetic Heterogeneity; Humans; Infant; Korea; Lipid Metabolism, Inborn Errors; Male; Mutation | 1999 |
Rapid diagnosis of organic acidemias and fatty-acid oxidation defects by quantitative electrospray tandem-MS acyl-carnitine analysis in plasma.
Topics: Acyl-CoA Dehydrogenases; Biomarkers; Calibration; Carnitine; Carnitine O-Palmitoyltransferase; Humans; Lipid Metabolism, Inborn Errors; Oxidation-Reduction; Sensitivity and Specificity; Spectrometry, Mass, Secondary Ion | 1999 |
MCAD deficiency. Acylcarnitines (AC) by tandem mass spectrometry (MS-MS) are useful to monitor dietary treatment.
Topics: Acyl-CoA Dehydrogenase; Carnitine; Fatty Acid Desaturases; Female; Humans; Infant; Lipid Metabolism, Inborn Errors; Mass Spectrometry; Monitoring, Physiologic | 1999 |
Identification of undescribed medium-chain acylcarnitines present in urine of patients with propionic and methylmalonic acidemias.
Topics: Adult; Carboxy-Lyases; Carnitine; Case-Control Studies; Gas Chromatography-Mass Spectrometry; Humans; Infant; Lipid Metabolism, Inborn Errors; Male; Methylmalonic Acid; Methylmalonyl-CoA Decarboxylase; Propionates; Spectrometry, Mass, Fast Atom Bombardment | 2000 |
Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: monitoring of treatment by carnitine/acylcarnitine analysis in blood spots.
Topics: Carnitine; Fatty Acid Desaturases; Humans; Infant; Lipid Metabolism, Inborn Errors; Male; Monitoring, Physiologic; Sequence Analysis, DNA | 2000 |
Multiple acyl-CoA-dehydrogenase deficiency (MADD): use of acylcarnitines and fatty acids to monitor the response to dietary treatment.
Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Amino Acid Metabolism, Inborn Errors; Carnitine; Diet; Fatty Acids; Female; Humans; Infant, Newborn; Lipid Metabolism, Inborn Errors; Neonatal Screening | 2001 |
Oxidation of unsaturated fatty acids by human fibroblasts with very-long-chain acyl-CoA dehydrogenase deficiency: aspects of substrate specificity and correlation with clinical phenotype.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Acyl-CoA Dehydrogenases; Adult; Carnitine; Case-Control Studies; Cells, Cultured; Child; Child, Preschool; Fatty Acids, Unsaturated; Female; Fibroblasts; Humans; Infant, Newborn; Isomerism; Lipid Metabolism, Inborn Errors; Oleic Acid; Oleic Acids; Oxidation-Reduction; Substrate Specificity | 2001 |
Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse.
Topics: Acyl-CoA Dehydrogenase, Long-Chain; Animals; Carnitine; Fatty Acids; Female; Humans; Lipid Metabolism, Inborn Errors; Litter Size; Male; Mice; Mice, Inbred C57BL; Mice, Knockout; Mitochondria, Heart; Mitochondria, Liver; Mitochondria, Muscle | 2001 |