Page last updated: 2024-08-26

propionylcarnitine and Amino Acid Metabolism Disorders, Inborn

propionylcarnitine has been researched along with Amino Acid Metabolism Disorders, Inborn in 26 studies

Research

Studies (26)

Timeframe	Studies, this research(%)	All Research%
pre-1990	5 (19.23)	18.7374
1990's	4 (15.38)	18.2507
2000's	3 (11.54)	29.6817
2010's	10 (38.46)	24.3611
2020's	4 (15.38)	2.80

Authors

Authors	Studies
Chen, C; Ge, L; Liu, L; Luo, S; Mei, S; Zhang, X; Zhang, Y	1
Chen, T; Ding, S; Gu, X; Han, L; Liang, L; Ling, S; Qiu, W; Xu, F; Zhan, X; Zhang, H	1
Blessing, H; Lotz-Havla, AS; Maier, EM; Röschinger, W; Schiergens, KA; Weiss, KJ	1
Chen, LQ; Chen, RY; Chen, XQ; Li, XZ; Lin, Q; Shen, YY; Wu, HY; Xu, QY; Zhu, XM; Zhu, Y	1
Barić, I; Bártl, J; Baumgartner, MR; Ben-Omran, T; Blasco-Alonso, J; Blom, HJ; Bueno Delgado, MA; Carducci, C; Cassanello, M; Cerone, R; Chrastina, P; Couce, ML; Crushell, E; Delgado Pecellin, C; Dionisi-Vici, C; Dulin, E; Espada, M; Ferino, G; Fingerhut, R; Garcia Jimenez, I; Gleich, F; Gonzalez Gallego, I; González-Irazabal, Y; Gouveia, S; Gramer, G; Huemer, M; Juan Fita, MJ; Karg, E; Keller, R; Klein, J; Kölker, S; Konstantopoulou, V; Kožich, V; la Marca, G; Leão Teles, E; Leuzzi, V; Lilliu, F; Lopez, RM; Lund, AM; Mayne, P; Meavilla, S; Moat, SJ; Morris, AA; Okun, JG; Pasquini, E; Pavlíková, M; Pedron-Giner, CC; Racz, GZ; Ribes, A; Ruiz Gomez, MA; Vilarinho, L; Yahyaoui, R; Zerjav Tansek, M; Zetterström, RH; Zeyda, M	1
Gao, XL; Gu, XF; Han, LS; Li, XY; Qiu, WJ; Wang, Y; Wu, SN; Xu, H; Ye, J; Zhang, HW	1
Gao, XL; Gu, XF; Han, LS; Huang, Z; Ji, WJ; Li, XY; Qiu, WJ; Wang, Y; Ye, J; Zhang, HW	1
Ding, Y; Li, X; Liu, Y; Song, J; Wang, H; Wang, Q; Wu, T; Yang, Y; Zhang, Y	1
Ding, Y; Li, DX; Li, XY; Liu, YP; Qin, YP; Song, JQ; Wang, Q; Yang, YL; Zhang, Y	1
Al-Dirbashi, OY; Chakraborty, P; McIntosh, N	1
Baumgartner, MR; Burda, P; Devuyst, O; Fingerhut, R; Forny, P; Froese, DS; Heeren, J; Hornemann, T; Kölker, S; Langhans, CD; Mathis, D; Mustedanagic, M; Nägele, N; Peters, HL; Scheja, L; Schumann, A; Thony, B; Wulf, MA; Zhakupova, A	1
Endo, F; Inomata, Y; Kido, J; Matsumoto, S; Mitsubuchi, H; Nakamura, K; Sakamoto, R	1
Hata, I; Shigematsu, Y; Tajima, G	1
Gao, X; Gu, X; Han, L; Qiu, W; Wang, F; Wang, Y; Yang, Y; Ye, J; Zhang, H; Zhang, Y	1
Endo, F; Hirano, S; Kawai, M; Kuhara, T; Kurokawa, K; Mamada, M; Mitsubuchi, H; Muroi, J; Nakahata, T; Sakura, N; Shigematsu, Y; Yorifuji, T; Yoshida, I	1
Barshop, BA; Gangoiti, JA; Siuzdak, G; Wikoff, WR	1
Chalmers, RA; Hoppel, CL; Roe, CR; Stacey, TE	1
Böhles, H; Lehnert, W	1
Chalmers, RA; Hoppel, CL; Millington, DS; Roe, CR; Stacey, TE; Tracey, BM	1
Chace, DH; Kahler, SG; Millington, DS; Van Hove, JL	1
Burns, SP; Chalmers, RA; Iles, RA; Saudubray, JM	1
Chace, DH; DiPerna, JC; Johnson, RW; Kalas, TA; Naylor, EW	1
Sakuma, T	1
Kidouchi, K; Kobayashi, M; Sugiyama, N; Wada, Y	1
Beckeringh, TE; Duran, M; Ketting, D; Leupold, D; Wadman, SK	1
Bieber, LL; Jakobs, C; Penn, D; Schmidt-Sommerfeld, E	1

Trials

1 trial(s) available for propionylcarnitine and Amino Acid Metabolism Disorders, Inborn

Article	Year
Propionylcarnitine excretion is not affected by metronidazole administration to patients with disorders of propionate metabolism. European journal of pediatrics, 1996, Volume: 155, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Antitrichomonal Agents; Carnitine; Child, Preschool; Humans; Infant; Magnetic Resonance Spectroscopy; Methylmalonic Acid; Metronidazole; Propionates	1996

Other Studies

25 other study(ies) available for propionylcarnitine and Amino Acid Metabolism Disorders, Inborn

Article	Year
[Analysis of clinical phenotypes and MMACHC gene variants in 65 children with Methylmalonic acidemia and homocysteinemia]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2023, Sep-10, Volume: 40, Issue:9 Topics: Amino Acid Metabolism, Inborn Errors; Humans; Hydrocephalus; Oxidoreductases	2023
Late-onset cblC defect: clinical, biochemical and molecular analysis. Orphanet journal of rare diseases, 2023, 09-28, Volume: 18, Issue:1 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Child, Preschool; Homocystinuria; Humans; Methylmalonic Acid; Mutation; Oxidoreductases; Vitamin B 12; Young Adult	2023
Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood Spots. Annals of nutrition & metabolism, 2020, Volume: 76, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Diagnosis, Differential; Dried Blood Spot Testing; Female; Humans; Infant, Newborn; Male; Methylmalonic Acid; Neonatal Screening; Pilot Projects; Vitamin B 12 Deficiency	2020
Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report. BMC medical genetics, 2020, 09-21, Volume: 21, Issue:1 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Base Sequence; Carnitine; Child, Preschool; DNA; Gas Chromatography-Mass Spectrometry; Homocysteine; Humans; Hyperhomocysteinemia; Male; Methylmalonic Acid; Proteinuria	2020
Newborn screening for homocystinurias: Recent recommendations versus current practice. Journal of inherited metabolic disease, 2019, Volume: 42, Issue:1 Topics: Acetylcarnitine; Amino Acid Metabolism, Inborn Errors; Carnitine; Female; Glycine N-Methyltransferase; Homocysteine; Homocystinuria; Humans; Infant, Newborn; Male; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Methylmalonic Acid; Muscle Spasticity; Neonatal Screening; Phenylalanine; Psychotic Disorders	2019
[Analysis of propionylcarnitine in blood and methylmalonic acid in urine of 162 patients with methylmalonic acidemia]. Zhonghua yi xue za zhi, 2013, Feb-26, Volume: 93, Issue:8 Topics: Acetylcarnitine; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Carnitine; Case-Control Studies; Child; Child, Preschool; Female; Gas Chromatography-Mass Spectrometry; Humans; Infant; Infant, Newborn; Male; Methylmalonic Acid; Tandem Mass Spectrometry; Young Adult	2013
[Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment]. Zhonghua er ke za zhi = Chinese journal of pediatrics, 2013, Volume: 51, Issue:3 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Betaine; Carnitine; Child; Child, Preschool; Female; Follow-Up Studies; Homocystine; Homocystinuria; Humans; Hydroxocobalamin; Infant; Infant, Newborn; Male; Methylmalonic Acid; Neonatal Screening; Treatment Outcome; Vitamin B 12; Vitamin B 12 Deficiency; Young Adult	2013
[Acute encephalopathy induced by vaccination in an infant with methylmalonic aciduria cblA]. Zhonghua er ke za zhi = Chinese journal of pediatrics, 2015, Volume: 53, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases; Carnitine; Diet, Protein-Restricted; Hepatitis B Vaccines; Humans; Infant; Male; Methylmalonic Acid; Mutation; Vaccination; Vitamin B Complex; Vomiting	2015
[Clinical and laboratory studies on four Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria]. Zhonghua er ke za zhi = Chinese journal of pediatrics, 2016, Volume: 54, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Asian People; Carnitine; Diagnosis, Differential; DNA Mutational Analysis; Humans; Infant; Infant, Newborn; Magnetic Resonance Imaging; Methylmalonic Acid; Mitochondrial Diseases; Mutation; Succinate-CoA Ligases	2016
Quantification of 2-methylcitric acid in dried blood spots improves newborn screening for propionic and methylmalonic acidemias. Journal of medical screening, 2017, Volume: 24, Issue:2 Topics: Acetylcarnitine; Algorithms; Amino Acid Metabolism, Inborn Errors; Biomarkers; Carnitine; Chromatography, Liquid; Citrates; Dried Blood Spot Testing; False Positive Reactions; Humans; Infant, Newborn; Methylmalonic Acid; Neonatal Screening; Predictive Value of Tests; Reference Values; Referral and Consultation; Reproducibility of Results; Tandem Mass Spectrometry	2017
Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect. The Journal of biological chemistry, 2016, 09-23, Volume: 291, Issue:39 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Biomarkers; Brain; Carnitine; Dietary Proteins; Disease Models, Animal; Gene Dosage; Gene Knock-In Techniques; Kidney; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Mice; Mice, Knockout; Phenotype; Quantitative Trait, Heritable	2016
Improvement in the prognosis and development of patients with methylmalonic acidemia after living donor liver transplant. Pediatric transplantation, 2016, Volume: 20, Issue:8 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Child, Preschool; Diet, Protein-Restricted; Female; Follow-Up Studies; Humans; Japan; Liver Failure; Liver Transplantation; Living Donors; Male; Prognosis; Quality of Life; Surveys and Questionnaires; Treatment Outcome	2016
Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria. Journal of inherited metabolic disease, 2010, Volume: 33, Issue:Suppl 2 Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Blood Specimen Collection; Carnitine; Case-Control Studies; Chromatography, Liquid; False Positive Reactions; Gas Chromatography-Mass Spectrometry; Glycine; Humans; Infant, Newborn; Isovaleryl-CoA Dehydrogenase; Japan; Lactic Acid; Metabolism, Inborn Errors; Methylmalonic Acid; Neonatal Screening; Pilot Projects; Predictive Value of Tests; Retrospective Studies; Severity of Illness Index; Tandem Mass Spectrometry	2010
Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China. Journal of inherited metabolic disease, 2010, Volume: 33 Suppl 3 Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Carnitine; Carrier Proteins; Child, Preschool; China; Codon, Nonsense; DNA Mutational Analysis; Exons; Gas Chromatography-Mass Spectrometry; Gene Frequency; Genetic Association Studies; Genetic Predisposition to Disease; Heterozygote; Homocysteine; Homocystinuria; Homozygote; Humans; Infant; Infant, Newborn; Methylmalonic Acid; Oxidoreductases; Phenotype; Vitamin B 12 Deficiency	2010
Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications. Human genetics, 2002, Volume: 111, Issue:2 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Carboxy-Lyases; Carnitine; Child, Preschool; Citrates; DNA Mutational Analysis; DNA Primers; Exons; Humans; Infant; Japan; Methylmalonyl-CoA Decarboxylase; Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Prevalence; Propionates; RNA, Messenger	2002
Metabolomics identifies perturbations in human disorders of propionate metabolism. Clinical chemistry, 2007, Volume: 53, Issue:12 Topics: Acetylcarnitine; Adult; Amino Acid Metabolism, Inborn Errors; Betaine; Biomarkers; Carnitine; Child; Chromatography, High Pressure Liquid; Humans; Methylmalonic Acid; Plasma; Propionates; Spectrometry, Mass, Electrospray Ionization	2007
Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine. Pediatric research, 1984, Volume: 18, Issue:12 Topics: Acyl-CoA Dehydrogenases; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Carnitine; Child; Child, Preschool; Female; Hemiterpenes; Humans; Infant; Infant, Newborn; Lysine; Male; Methylmalonic Acid; Middle Aged; Pentanoic Acids; Propionates	1984
The effect of intravenous L-carnitine on propionic acid excretion in acute propionic acidaemia. European journal of pediatrics, 1984, Volume: 143, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Female; Humans; Infant; Injections, Intravenous; Propionates	1984
Metabolic response to carnitine in methylmalonic aciduria. An effective strategy for elimination of propionyl groups. Archives of disease in childhood, 1983, Volume: 58, Issue:11 Topics: Acetylcarnitine; Amino Acid Metabolism, Inborn Errors; Carnitine; Female; Humans; Infant; Malonates; Methylmalonic Acid	1983
Acylcarnitines in amniotic fluid: application to the prenatal diagnosis of propionic acidaemia. Journal of inherited metabolic disease, 1993, Volume: 16, Issue:2 Topics: Acylation; Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Carnitine; Female; Gestational Age; Humans; Mass Spectrometry; Pregnancy; Prenatal Diagnosis; Propionates; Reference Values	1993
Rapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns. Clinical chemistry, 2001, Volume: 47, Issue:11 Topics: Amino Acid Metabolism, Inborn Errors; Blood Specimen Collection; Carnitine; False Positive Reactions; Humans; Infant, Newborn; Methylmalonic Acid; Paper; Propionates; Spectrometry, Mass, Electrospray Ionization	2001
Alteration of urinary carnitine profile induced by benzoate administration. Archives of disease in childhood, 1991, Volume: 66, Issue:7 Topics: Acetylcarnitine; Administration, Oral; Amino Acid Metabolism, Inborn Errors; Ammonia; Benzoates; Benzoic Acid; Carnitine; Child, Preschool; Dose-Response Relationship, Drug; Hippurates; Humans; Male	1991
Carnitine deficiency in inherited organic acid disorders and Reye syndrome. Acta paediatrica Japonica : Overseas edition, 1990, Volume: 32, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child, Preschool; Humans; Infant; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Mitochondria; Propionates; Reye Syndrome	1990
Direct identification of propionylcarnitine in propionic acidaemia: biochemical and clinical results of oral carnitine supplementation. Journal of inherited metabolic disease, 1986, Volume: 9, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Chromatography, Paper; Humans; Infant, Newborn; Male; Mass Spectrometry; Muscle Hypotonia; Propionates	1986
Amniotic fluid propionylcarnitine in methylmalonic aciduria. Journal of inherited metabolic disease, 1987, Volume: 10, Issue:4 Topics: Acetylcarnitine; Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Carnitine; Chromatography, High Pressure Liquid; Female; Humans; Malonates; Methylmalonic Acid	1987