carnitine has been researched along with Acidemia Propionic in 17 studies
| Excerpt | Relevance | Reference |
|---|---|---|
| "Toxicity of accumulating substrates is a significant problem in several disorders of valine and isoleucine degradation notably short-chain enoyl-CoA hydratase (ECHS1 or crotonase) deficiency, 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency, propionic acidemia (PA), and methylmalonic aciduria (MMA)." | 4.31 | Acyl-CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isoleucine metabolism. ( Chen, H; Cross, JR; DeVita, RJ; Dodatko, T; Dwyer, W; Houten, SM; Leandro, J; Stauffer, B; Vaz, FM; Violante, S; Yu, C, 2023) |
| "Macrosomia is an interfering factor for the analytes C3 and C18:1, leading to higher risk of false-positive results for methylmalonic/propionic acidemia and carnitine palmitoyl transferase type 2 deficiency, respectively." | 3.96 | Neonatal Macrosomia is an Interfering Factor for Analytes on the Colorado State Newborn Screen. ( Baker, PR; Wright, EL, 2020) |
| "3-Hydroxypalmitoleoyl-carnitine (C16:1-OH) has recently been reported to be elevated in acylcarnitine profiles of patients with propionic acidemia (PA) or methylmalonic acidemia (MMA) during expanded newborn screening (NBS)." | 3.81 | Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias. ( Biggeri, A; Chace, D; De Jesus, VR; Funghini, S; Garg, U; Grisotto, L; Guerrini, R; Haynes, CA; la Marca, G; Malvagia, S; McGreevy, KS; Moretti, E; Ombrone, D; Seeterlin, M; Yahyaoui, R, 2015) |
| "N-carbamoyl-L-glutamate, combined with a protein-restricted diet and L-carnitine supplementation, was apparently effective as first-line treatment of hyperammonemia in this infant with PA." | 3.76 | Outpatient treatment of propionic acidemia-associated hyperammonemia with N-carbamoyl-L-glutamate in an infant. ( Aydin, A; Demirci, E; Soyucen, E, 2010) |
| "Carglumic acid was well tolerated with no side effects noted." | 1.39 | Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia. ( Abacan, M; Boneh, A, 2013) |
| "Propionic acidemia is a rare autosomal recessive disorder affecting the catabolism of branched-chain amino acids because of a genetic defect in PCC." | 1.38 | Living-donor liver transplantation for propionic acidemia. ( Fukuda, A; Horikawa, R; Ishige, M; Kakiuchi, T; Kanazawa, H; Karaki, C; Kasahara, M; Kosaki, R; Nagao, M; Naiki, Y; Nakazawa, A; Sakamoto, S; Shigematsu, Y; Shigeta, T; Yorifuji, T, 2012) |
| "Propionic acidemia is a hereditary metabolic disease caused by a deficiency of enzyme propionyl-CoA carboxylase, which is involved in the catabolism of ramified amino acids, odd-chain fatty acids, and other metabolites; the deficiency of this enzyme leads to an accumulation of toxic substances in the body." | 1.34 | Subacute presentation of propionic acidemia. ( de la Sierra García-Valdecasas, M; del Portal, LR; Delgado, C; Jiménez, LM; Macías, C; Pérez, M, 2007) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (5.88) | 29.6817 |
| 2010's | 9 (52.94) | 24.3611 |
| 2020's | 7 (41.18) | 2.80 |
| Authors | Studies |
|---|---|
| Ma, X | 1 |
| Liu, Y | 1 |
| Chen, ZH | 1 |
| Zhang, Y | 1 |
| Dong, H | 1 |
| Song, JQ | 1 |
| Jin, Y | 1 |
| Li, MQ | 1 |
| Kang, LL | 1 |
| He, RX | 1 |
| Ding, Y | 1 |
| Li, DX | 1 |
| Zheng, H | 1 |
| Sun, LY | 1 |
| Zhu, ZJ | 1 |
| Yang, YL | 1 |
| Cao, Y | 1 |
| Subramanian, C | 1 |
| Frank, MW | 1 |
| Tangallapally, R | 1 |
| Yun, MK | 1 |
| White, SW | 1 |
| Lee, RE | 1 |
| Rock, CO | 1 |
| Jackowski, S | 1 |
| Houten, SM | 1 |
| Dodatko, T | 1 |
| Dwyer, W | 1 |
| Violante, S | 1 |
| Chen, H | 1 |
| Stauffer, B | 1 |
| DeVita, RJ | 1 |
| Vaz, FM | 1 |
| Cross, JR | 1 |
| Yu, C | 1 |
| Leandro, J | 1 |
| Maier, EM | 1 |
| Mütze, U | 1 |
| Janzen, N | 1 |
| Steuerwald, U | 1 |
| Nennstiel, U | 1 |
| Odenwald, B | 1 |
| Schuhmann, E | 1 |
| Lotz-Havla, AS | 1 |
| Weiss, KJ | 1 |
| Hammersen, J | 1 |
| Weigel, C | 1 |
| Thimm, E | 1 |
| Grünert, SC | 1 |
| Hennermann, JB | 1 |
| Freisinger, P | 1 |
| Krämer, J | 1 |
| Das, AM | 1 |
| Illsinger, S | 1 |
| Gramer, G | 1 |
| Fang-Hoffmann, J | 1 |
| Garbade, SF | 1 |
| Okun, JG | 1 |
| Hoffmann, GF | 1 |
| Kölker, S | 1 |
| Röschinger, W | 1 |
| Bower, A | 1 |
| Imbard, A | 1 |
| Benoist, JF | 1 |
| Pichard, S | 1 |
| Rigal, O | 1 |
| Baud, O | 1 |
| Schiff, M | 1 |
| Wright, EL | 1 |
| Baker, PR | 1 |
| Wenger, O | 1 |
| Brown, M | 1 |
| Smith, B | 1 |
| Chowdhury, D | 1 |
| Crosby, AH | 1 |
| Baple, EL | 1 |
| Yoder, M | 1 |
| Laxen, W | 1 |
| Tortorelli, S | 1 |
| Strauss, KA | 1 |
| Armstrong, AJ | 1 |
| Collado, MS | 1 |
| Henke, BR | 1 |
| Olson, MW | 1 |
| Hoang, SA | 1 |
| Hamilton, CA | 1 |
| Pourtaheri, TD | 1 |
| Chapman, KA | 1 |
| Summar, MM | 1 |
| Johns, BA | 1 |
| Wamhoff, BR | 1 |
| Reardon, JE | 1 |
| Figler, RA | 1 |
| Nashabat, M | 1 |
| Obaid, A | 1 |
| Al Mutairi, F | 1 |
| Saleh, M | 1 |
| Elamin, M | 1 |
| Ahmed, H | 1 |
| Ababneh, F | 1 |
| Eyaid, W | 1 |
| Alswaid, A | 1 |
| Alohali, L | 1 |
| Faqeih, E | 1 |
| Aljeraisy, M | 1 |
| Hussein, MA | 1 |
| Alasmari, A | 1 |
| Alfadhel, M | 1 |
| Abacan, M | 1 |
| Boneh, A | 1 |
| Rafique, M | 1 |
| Guenzel, AJ | 1 |
| Collard, R | 1 |
| Kraus, JP | 1 |
| Matern, D | 1 |
| Barry, MA | 1 |
| Malvagia, S | 1 |
| Haynes, CA | 1 |
| Grisotto, L | 1 |
| Ombrone, D | 1 |
| Funghini, S | 1 |
| Moretti, E | 1 |
| McGreevy, KS | 1 |
| Biggeri, A | 1 |
| Guerrini, R | 1 |
| Yahyaoui, R | 1 |
| Garg, U | 1 |
| Seeterlin, M | 1 |
| Chace, D | 1 |
| De Jesus, VR | 1 |
| la Marca, G | 1 |
| Romano, S | 1 |
| Valayannopoulos, V | 1 |
| Touati, G | 1 |
| Jais, JP | 1 |
| Rabier, D | 1 |
| de Keyzer, Y | 1 |
| Bonnet, D | 1 |
| de Lonlay, P | 1 |
| Soyucen, E | 1 |
| Demirci, E | 1 |
| Aydin, A | 1 |
| Kasahara, M | 1 |
| Sakamoto, S | 1 |
| Kanazawa, H | 1 |
| Karaki, C | 1 |
| Kakiuchi, T | 1 |
| Shigeta, T | 1 |
| Fukuda, A | 1 |
| Kosaki, R | 1 |
| Nakazawa, A | 1 |
| Ishige, M | 1 |
| Nagao, M | 1 |
| Shigematsu, Y | 1 |
| Yorifuji, T | 1 |
| Naiki, Y | 1 |
| Horikawa, R | 1 |
| Delgado, C | 1 |
| Macías, C | 1 |
| de la Sierra García-Valdecasas, M | 1 |
| Pérez, M | 1 |
| del Portal, LR | 1 |
| Jiménez, LM | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Randomized Multicentre Comparative Trial to Evaluate the Long Term Effectiveness of the Use of Carbaglu® in Patients With Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA)[NCT02426775] | Phase 3 | 33 participants (Actual) | Interventional | 2015-11-30 | Completed | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
1 trial available for carnitine and Acidemia Propionic
| Article | Year |
|---|---|
Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Clinical Trials, Phase III as To | 2019 |
16 other studies available for carnitine and Acidemia Propionic
| Article | Year |
|---|---|
[Phenotypes and genotypes of 78 patients with propionic acidemia].
Topics: Carnitine; Female; Genotype; Humans; Male; Methylmalonyl-CoA Decarboxylase; Mutation; Phenotype; Pro | 2022 |
Relief of CoA sequestration and restoration of mitochondrial function in a mouse model of propionic acidemia.
Topics: Animals; Carnitine; Disease Models, Animal; Methylmalonyl-CoA Decarboxylase; Mice; Mitochondria; Pro | 2023 |
Acyl-CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isoleucine metabolism.
Topics: 2-Methyl-4-chlorophenoxyacetic Acid; Acyl-CoA Dehydrogenase; Carnitine; HEK293 Cells; Humans; Isoleu | 2023 |
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
Topics: Carnitine; Humans; Infant, Newborn; Metabolism, Inborn Errors; Neonatal Screening; Propionic Acidemi | 2023 |
Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening.
Topics: Amino Acids; Carnitine; Female; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intensiv | 2019 |
Neonatal Macrosomia is an Interfering Factor for Analytes on the Colorado State Newborn Screen.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Carnitine; Carnitine O-Palmitoyltransferase; Colorado; | 2020 |
Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia.
Topics: Acids; Adolescent; Adult; Amino Acids; Biomarkers; Carbon-Carbon Ligases; Carnitine; Child; Child, P | 2020 |
A novel small molecule approach for the treatment of propionic and methylmalonic acidemias.
Topics: Acyl Coenzyme A; Amino Acid Metabolism, Inborn Errors; Carnitine; Cell Line; Citrates; Hepatocytes; | 2021 |
Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia.
Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Carnitine; Child, Preschool; Female; Glutamates; Huma | 2013 |
Emerging trends in management of propionic acidemia.
Topics: Adolescent; Anti-Infective Agents; Biotin; Carnitine; Child; Child, Preschool; Diet, Protein-Restric | 2014 |
Long-term sex-biased correction of circulating propionic acidemia disease markers by adeno-associated virus vectors.
Topics: Animals; Biomarkers; Carnitine; Citrates; Dependovirus; Female; Genetic Therapy; Genetic Vectors; In | 2015 |
Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias.
Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Carnitine; Humans; Infant, Newborn; Neonatal Scree | 2015 |
Cardiomyopathies in propionic aciduria are reversible after liver transplantation.
Topics: Cardiomyopathy, Dilated; Carnitine; Child; Child, Preschool; Humans; Liver Transplantation; Propiona | 2010 |
Outpatient treatment of propionic acidemia-associated hyperammonemia with N-carbamoyl-L-glutamate in an infant.
Topics: Carnitine; Diet; Female; Glutamates; Humans; Hyperammonemia; Infant; Propionic Acidemia | 2010 |
Living-donor liver transplantation for propionic acidemia.
Topics: Carnitine; Child, Preschool; Citrates; Female; Humans; Infant; Liver Transplantation; Living Donors; | 2012 |
Subacute presentation of propionic acidemia.
Topics: Acidosis; Amino Acids; Biotin; Brain; Carnitine; Diagnosis, Differential; Diet, Protein-Restricted; | 2007 |