methylmalonic acid and propionylcarnitine

methylmalonic acid has been researched along with propionylcarnitine in 35 studies

Research

Studies (35)

Timeframe	Studies, this research(%)	All Research%
pre-1990	6 (17.14)	18.7374
1990's	3 (8.57)	18.2507
2000's	8 (22.86)	29.6817
2010's	14 (40.00)	24.3611
2020's	4 (11.43)	2.80

Authors

Authors	Studies
Kidouchi, K; Kobayashi, M; Sugiyama, N; Wada, Y	1
Bieber, LL; Jakobs, C; Penn, D; Schmidt-Sommerfeld, E	1
Jeffrey, FM; Malloy, CR; Rajagopal, A; Roby, RE; Sherry, AD	1
Brass, EP; Stabler, SP	1
Chalmers, RA; Hoppel, CL; Roe, CR; Stacey, TE	1
Chalmers, RA; Hoppel, CL; Millington, DS; Roe, CR; Stacey, TE; Tracey, BM	1
Di Donato, S; Garavaglia, B; Rimoldi, M; Uziel, G	1
Hoppel, CL; Minkler, PE	1
Burns, SP; Chalmers, RA; Iles, RA; Saudubray, JM	1
de Hoffmann, E; Libert, R; Nassogne, MC; Schanck, A; Thillaye, M; Van Hoof, F; Vincent, MF	1
Chace, DH; DiPerna, JC; Johnson, RW; Kalas, TA; Naylor, EW	1
Kushnir, MM; Pasquali, M; Roberts, WL; Shushan, B	1
Hasegawa, Y; Iga, M; Kimura, M; Shigematsu, Y; Yamaguchi, S	1
Campbell, CD; Ficicioglu, C; Ganesh, J	1
Donati, MA; Innocenti, M; la Marca, G; Malvagia, S; Pasquini, E; Zammarchi, E	1
Barshop, BA; Gangoiti, JA; Siuzdak, G; Wikoff, WR	1
Dong, JH; Hasegawa, Y; Liu, P; Qin, J; Sayami, S; Shi, CY; Song, JQ; Yamaguchi, S; Yan, R; Yang, YL; Zhang, Y	1
Chen, PW; Chien, YH; Ho, MC; Hwu, WL; Lee, NC; Lee, PH; Ni, YH	1
Hata, I; Shigematsu, Y; Tajima, G	1
Chen, YJ; Cheng, KH; Chiang, CC; Ho, HJ; Hsiao, KJ; Huang, CH; Hung, PY; Hwu, WL; Kao, CH; Lee, NC; Lin, HY; Lin, JL; Lin, SP; Liu, MY; Liu, TT; Niu, DM	1
Gao, X; Gu, X; Han, L; Qiu, W; Wang, F; Wang, Y; Yang, Y; Ye, J; Zhang, H; Zhang, Y	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
Albano, L; Caterino, M; di Girolamo, MG; Di Stefano, C; Franzese, I; Gallo, G; Ingenito, L; Pecce, R; Ruoppolo, M; Scolamiero, E; Villani, GR	1
Ding, Y; Li, X; Liu, Y; Song, J; Wang, H; Wang, Q; Wu, T; Yang, Y; Zhang, Y	1
Baumgartner, MR; Blom, HJ; Huemer, M; Kožich, V; Merinero, B; Pasquini, E; Ribes, A; Rinaldo, P	1
Gao, X; Gong, Z; Gu, X; Han, L; Jin, J; Qiu, W; Wang, Y; Wu, S; Ye, J; Zhang, H	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
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
Hu, L; Hu, Z; Huang, X; Lin, Y; Wang, J; Yang, J; Zhang, C; Zhang, Y	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
Chen, T; Ding, S; Gu, X; Han, L; Liang, L; Ling, S; Qiu, W; Xu, F; Zhan, X; Zhang, H	1

Reviews

1 review(s) available for methylmalonic acid and propionylcarnitine

Article	Year
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines. Journal of inherited metabolic disease, 2015, Volume: 38, Issue:6 Topics: Acetylcarnitine; Betaine; Carnitine; Homocystinuria; Humans; Infant, Newborn; Methionine; Methylation; Methylenetetrahydrofolate Reductase (NADPH2); Methylmalonic Acid; Neonatal Screening; Practice Guidelines as Topic	2015

Article

Year

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.

Journal of inherited metabolic disease, 2015, Volume: 38, Issue:6

Topics: Acetylcarnitine; Betaine; Carnitine; Homocystinuria; Humans; Infant, Newborn; Methionine; Methylation; Methylenetetrahydrofolate Reductase (NADPH2); Methylmalonic Acid; Neonatal Screening; Practice Guidelines as Topic

2015

Trials

1 trial(s) available for methylmalonic acid and propionylcarnitine

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

33 other study(ies) available for methylmalonic acid and propionylcarnitine

Article	Year
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
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
Propionate metabolism in the rat heart by 13C n.m.r. spectroscopy. The Biochemical journal, 1988, Sep-01, Volume: 254, Issue:2 Topics: Animals; Carbon Isotopes; Carnitine; In Vitro Techniques; Magnetic Resonance Spectroscopy; Methylmalonic Acid; Myocardium; Perfusion; Propionates; Pyruvates; Pyruvic Acid; Rats	1988
Carnitine metabolism in the vitamin B-12-deficient rat. The Biochemical journal, 1988, Oct-01, Volume: 255, Issue:1 Topics: Acetylcarnitine; Animals; Body Weight; Carnitine; Fasting; Male; Methylmalonic Acid; Rats; Vitamin B 12 Deficiency	1988
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
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
Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency. Clinica chimica acta; international journal of clinical chemistry, 1984, May-16, Volume: 139, Issue:1 Topics: Carnitine; Child, Preschool; Humans; Infant; Infant, Newborn; Malonates; Metabolism, Inborn Errors; Methylmalonic Acid; Muscles; Propionates	1984
Quantification of free carnitine, individual short- and medium-chain acylcarnitines, and total carnitine in plasma by high-performance liquid chromatography. Analytical biochemistry, 1993, Aug-01, Volume: 212, Issue:2 Topics: Acetylcarnitine; Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Acylation; Carnitine; Chromatography, High Pressure Liquid; Humans; Methylmalonic Acid; Molecular Weight; Propionates; Reference Standards; Reproducibility of Results	1993
Identification of undescribed medium-chain acylcarnitines present in urine of patients with propionic and methylmalonic acidemias. Clinica chimica acta; international journal of clinical chemistry, 2000, Volume: 295, Issue:1-2 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
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
Serum acylcarnitines and vitamin B12 deficiency. Clinical chemistry, 2002, Volume: 48, Issue:7 Topics: Aged; Carnitine; Chromatography, High Pressure Liquid; Female; Humans; Male; Mass Spectrometry; Methylmalonic Acid; Middle Aged; Vitamin B 12 Deficiency	2002
Prenatal diagnosis for organic acid disorders using two mass spectrometric methods, gas chromatography mass spectrometry and tandem mass spectrometry. Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2005, Aug-25, Volume: 823, Issue:1 Topics: Amniotic Fluid; Carboxylic Acids; Carnitine; Female; Fetal Diseases; Gas Chromatography-Mass Spectrometry; Glutarates; Humans; Mass Spectrometry; Metabolism, Inborn Errors; Methylmalonic Acid; Pregnancy; Prenatal Diagnosis; Propionates; Reproducibility of Results; Sensitivity and Specificity; Spectrometry, Mass, Electrospray Ionization; Temperature	2005
Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency. Haematologica, 2005, Volume: 90, Issue:12 Suppl Topics: Acyl-CoA Dehydrogenase, Long-Chain; Anemia, Pernicious; Autoimmune Diseases; Biomarkers; Carnitine; Citrates; Cystathionine; False Negative Reactions; Female; Gastric Bypass; Heterozygote; Homocysteine; Humans; Hydroxocobalamin; Infant Food; Infant, Newborn; Malabsorption Syndromes; Male; Mass Spectrometry; Maternal-Fetal Exchange; Methylmalonic Acid; Neonatal Screening; Pregnancy; Pregnancy Complications; Vitamin B 12 Deficiency	2005
Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometry. Clinical chemistry, 2007, Volume: 53, Issue:7 Topics: Blood Specimen Collection; Carnitine; Chromatography, Liquid; False Positive Reactions; Humans; Infant, Newborn; Lactic Acid; Methylmalonic Acid; Neonatal Screening; Predictive Value of Tests; Tandem Mass Spectrometry	2007
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
Prenatal diagnosis of methylmalonic aciduria by analysis of organic acids and total homocysteine in amniotic fluid. Chinese medical journal, 2008, Feb-05, Volume: 121, Issue:3 Topics: Amniotic Fluid; Carnitine; Citrates; Female; Gas Chromatography-Mass Spectrometry; Homocysteine; Humans; Male; Methylmalonic Acid; Pregnancy; Prenatal Diagnosis; Spectrometry, Mass, Electrospray Ionization	2008
Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation. Pediatric transplantation, 2010, Volume: 14, Issue:3 Topics: Carnitine; Child; Child, Preschool; Female; Humans; Infant; Liver Transplantation; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl-CoA Mutase	2010
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
Newborn screening for methylmalonic aciduria by tandem mass spectrometry: 7 years' experience from two centers in Taiwan. Journal of the Chinese Medical Association : JCMA, 2010, Volume: 73, Issue:6 Topics: Acetylcarnitine; Ammonia; Carnitine; Humans; Infant, Newborn; Methylmalonic Acid; Neonatal Screening; Taiwan; 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
[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
Maternal vitamin B12 deficiency detected in expanded newborn screening. Clinical biochemistry, 2014, Volume: 47, Issue:18 Topics: Carnitine; Female; Folic Acid; Homocysteine; Humans; Infant, Newborn; Methylmalonic Acid; Neonatal Screening; Pregnancy; Pregnancy Complications; Transcobalamins; Vitamin B 12; Vitamin B 12 Deficiency	2014
[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
Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening. American journal of medical genetics. Part A, 2015, Volume: 167A, Issue:10 Topics: Acetylcarnitine; Acidosis; Asian People; Asymptomatic Diseases; Carboxy-Lyases; Carnitine; Carrier Proteins; Child; Citrates; Female; Gene Expression; Humans; Infant; Infant, Newborn; Male; Malonates; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Mutation; Neonatal Screening; Oxidoreductases	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
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
Determination of methylmalonic acid, 2-methylcitric acid, and total homocysteine in dried blood spots by liquid chromatography-tandem mass spectrometry: A reliable follow-up method for propionylcarnitine-related disorders in newborn screening. Journal of medical screening, 2021, Volume: 28, Issue:2 Topics: Carnitine; Chromatography, Liquid; Citrates; Follow-Up Studies; Homocysteine; Humans; Infant; Infant, Newborn; Methylmalonic Acid; Neonatal Screening; Prospective Studies; Retrospective Studies; Tandem Mass Spectrometry	2021
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
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