carnitine has been researched along with Propionic Acidemia in 17 studies
Propionic Acidemia: Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, HYPERGLYCEMIA, lethargy, vomiting, HYPOTONIA; and HEPATOMEGALY. Survivors of the neonatal onset propionic acidemia often show developmental retardation, and intolerance to dietary proteins. Late-onset form of the disease shows mild mental and/or developmental retardation, sometimes without metabolic acidemia.
| 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 Propionic Acidemia
| 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 Propionic Acidemia
| 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 |