methylmalonic acid and malonyl coenzyme a

methylmalonic acid has been researched along with malonyl coenzyme a in 19 studies

Research

Studies (19)

TimeframeStudies, this research(%)All Research%
pre-19902 (10.53)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's13 (68.42)24.3611
2020's4 (21.05)2.80

Authors

AuthorsStudies
Fennessey, PV; Goodman, SI; Jellum, E; Mace, JW; McCabe, ER; Miles, BS1
Bankier, A; Brown, GK; Danks, DM; Scholem, RD1
Burch, M; Cleary, MA; Dixon, M; Footitt, EJ; Jakobs, C; Salomons, GS; Stafford, J1
Al-Thihli, K; Alfares, A; Anastasio, N; Braverman, N; Ha, KC; Majewski, J; Melançon, S; Mitchell, J; Nunez, LD; Rosenblatt, DS1
Barshop, BA; Berry, SA; Biesecker, LG; Carrillo-Carrasco, N; Champaigne, NL; Chandler, RJ; Chandrasekaran, SD; de Lonlay, P; Dorward, HM; Gavrilov, DK; Geschwind, MD; Hauser, NS; Huizing, M; James, PM; Johnston, JJ; Krause, C; Manoli, I; Nyhan, WL; O'Brien, K; Sapp, JC; Sloan, JL; Sysol, JR; Valayannopoulos, V; Venditti, CP1
Liang, D; Peng, J; Wu, L; Xue, J; Yin, F; Zhong, L; Zhou, M1
Grenier, MA; Huth, CM; Jefferies, JL; Leslie, ND; Page, KI; Prada, CE; Spicer, RL; Towbin, JA1
Davis-Keppen, L; Groeneveld, S; Lynch, DW; Ramirez, M; Reindl, BA; Tams, KC; Valbracht, M1
Carducci, C; Celato, A; De Leo, S; Giannini, MT; Leuzzi, V; Mitola, C; Tolve, M1
Polinati, PP; Tyni, T; Valanne, L1
Baertling, F; Distelmaier, F; Kovacevic, A; Mayatepek, E; Meissner, T; Salomons, GS; Schlune, A; Thimm, E1
Gao, X; Gong, Z; Gu, X; Han, L; Jin, J; Qiu, W; Wang, Y; Wu, S; Ye, J; Zhang, H1
Cheng, Z; Colak, G; Dai, L; de Boer, VC; Huang, H; Liu, X; Locasale, JW; Lombard, DB; Park, J; Pougovkina, O; Tan, M; Te Brinke, H; Wan, X; Wanders, RJ; Yue, WW; Zhao, Y1
Gu, X; Han, L; Liu, H; Qiu, W; Tan, D; Ye, J; Zhang, H1
Abu-Elheiga, LA; Ambati, CS; Shetty, V; Yuan, F; Zhang, Y1
Ko, JM; Lee, SH; Park, KS; Song, J; Song, MK1
Al-Kouatly, HB; Gabriel, MC; Mossayebi, MH; Rice, SM; Sloan, JL; Venditti, CP1
Çetin, II; Ceylan, AC; Civelek Ürey, B; Kasapkara, CS; Ünal Uzun, Ö1
Abily-Donval, L; Bekri, S; Goldenberg, A; Marret, S; Salomons, GS; Snanoudj, S; Sudrié-Arnaud, B; Tebani, A; Torre, S1

Other Studies

19 other study(ies) available for methylmalonic acid and malonyl coenzyme a

ArticleYear
Methylmalonic/beta-hydroxy-n-valeric aciduria due to methylmalonyl-CoA mutase deficiency.
    Clinica chimica acta; international journal of clinical chemistry, 1978, Aug-01, Volume: 87, Issue:3

    Topics: Amino Acid Metabolism, Inborn Errors; Chromatography, Gas; Humans; Hydroxy Acids; Infant, Newborn; Infant, Newborn, Diseases; Isomerases; Liver; Male; Malonates; Malonyl Coenzyme A; Mass Spectrometry; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Pentanoic Acids; Valerates

1978
Malonyl coenzyme A decarboxylase deficiency.
    Journal of inherited metabolic disease, 1984, Volume: 7, Issue:1

    Topics: Acyl Coenzyme A; Carboxy-Lyases; Child, Preschool; Fatty Acid Synthases; Fibroblasts; Humans; Male; Malonates; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Mitochondria

1984
Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy.
    Journal of inherited metabolic disease, 2010, Volume: 33 Suppl 3

    Topics: Angiotensin-Converting Enzyme Inhibitors; Captopril; Carboxy-Lyases; Cardiomyopathies; Carnitine; Child, Preschool; Combined Modality Therapy; Dietary Supplements; Female; Genetic Predisposition to Disease; Humans; Infant; Infant Formula; Infant Nutritional Physiological Phenomena; Infant, Newborn; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Mutation; Nutritional Status; Phenotype; Treatment Outcome; Triglycerides

2010
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.
    Journal of medical genetics, 2011, Volume: 48, Issue:9

    Topics: Alleles; Amino Acid Metabolism, Inborn Errors; Base Sequence; Carboxy-Lyases; Coenzyme A Ligases; Exome; Genetic Association Studies; Humans; Infant; Malonates; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Molecular Sequence Data; Mutation; Pedigree; Phenotype; Sequence Analysis, DNA

2011
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.
    Nature genetics, 2011, Aug-14, Volume: 43, Issue:9

    Topics: Adolescent; Aged; Amino Acid Sequence; Carboxy-Lyases; Child, Preschool; Coenzyme A Ligases; Exons; Female; Humans; Male; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Middle Aged; Molecular Sequence Data; Mutation, Missense

2011
Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria.
    Molecular genetics and metabolism, 2012, Volume: 105, Issue:1

    Topics: Asian People; Base Sequence; Carboxy-Lyases; Child, Preschool; China; DNA Mutational Analysis; Heterozygote; Humans; Infant; Infant, Newborn; Male; Malonyl Coenzyme A; Metabolic Networks and Pathways; Metabolism, Inborn Errors; Methylmalonic Acid; Molecular Sequence Data; Mutation

2012
Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy.
    Pediatrics, 2012, Volume: 130, Issue:2

    Topics: Alleles; Carboxy-Lyases; Cardiomyopathies; Carnitine; Chromosome Aberrations; Chromosome Deletion; Codon, Terminator; Dietary Fats; DNA Mutational Analysis; Echocardiography, Doppler, Color; Female; Frameshift Mutation; Genes, Recessive; Homozygote; Humans; Infant; Infant Formula; Infant, Newborn; Isolated Noncompaction of the Ventricular Myocardium; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Neonatal Screening; Phenotype; Rare Diseases; Triglycerides

2012
Sani-cloth wipe mimics rare enzyme deficiency malonic aciduria on newborn screen.
    Pediatrics, 2012, Volume: 130, Issue:5

    Topics: Blood Chemical Analysis; Carboxy-Lyases; Drug Contamination; Equipment and Supplies, Hospital; False Positive Reactions; Humans; Infant, Newborn; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Neonatal Screening

2012
A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment.
    Brain & development, 2013, Volume: 35, Issue:7

    Topics: Carboxy-Lyases; Child, Preschool; Early Diagnosis; Humans; Infant, Newborn; Male; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Mutation; Neonatal Screening

2013
Malonyl-CoA decarboxylase deficiency: long-term follow-up of a patient new clinical features and novel mutations.
    Brain & development, 2015, Volume: 37, Issue:1

    Topics: Adolescent; Age of Onset; Base Sequence; Blotting, Western; Carboxy-Lyases; Child; Child, Preschool; DNA Mutational Analysis; Female; Humans; Immunohistochemistry; Infant; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Molecular Sequence Data; Mutation; Polymerase Chain Reaction

2015
Malonic aciduria: long-term follow-up of new patients detected by newborn screening.
    European journal of pediatrics, 2014, Volume: 173, Issue:12

    Topics: Carboxy-Lyases; Child; Diagnosis, Differential; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Male; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Neonatal Screening; Siblings; Time Factors

2014
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
Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation.
    Molecular & cellular proteomics : MCP, 2015, Volume: 14, Issue:11

    Topics: Animals; Carboxy-Lyases; Cell Line; Fatty Acids; Fibroblasts; Humans; Liver; Lysine; Male; Malonates; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Mice; Mice, Knockout; Mitochondria; Models, Molecular; Oxidation-Reduction; Sirtuins

2015
A new case of malonyl-CoA decarboxylase deficiency with mild clinical features.
    American journal of medical genetics. Part A, 2016, Volume: 170A, Issue:5

    Topics: Acidosis; Adolescent; Base Sequence; Carboxy-Lyases; Cardiomyopathies; Child; Chromosomes; Exons; Female; Humans; Malonates; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Microarray Analysis; Sequence Deletion

2016
Identification and Quantitation of Malonic Acid Biomarkers of In-Born Error Metabolism by Targeted Metabolomics.
    Journal of the American Society for Mass Spectrometry, 2017, Volume: 28, Issue:5

    Topics: Animals; Biomarkers; Carboxy-Lyases; Female; Humans; Limit of Detection; Male; Malonates; Malonyl Coenzyme A; Mass Spectrometry; Metabolism, Inborn Errors; Metabolomics; Methylmalonic Acid; Mice, Inbred C57BL; Phenylhydrazines

2017
A Korean child diagnosed with malonic aciduria harboring a novel start codon mutation following presentation with dilated cardiomyopathy.
    Molecular genetics & genomic medicine, 2020, Volume: 8, Issue:9

    Topics: Carboxy-Lyases; Cardiomyopathy, Dilated; Codon, Initiator; Humans; Infant; Male; Malonates; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Mutation; Phenotype

2020
Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria.
    Molecular genetics & genomic medicine, 2021, Volume: 9, Issue:4

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amniocentesis; Carboxy-Lyases; Coenzyme A Ligases; Female; Genetic Carrier Screening; Genetic Counseling; Heterozygote; Humans; Male; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Mutation; Pregnancy; Truth Disclosure

2021
Malonyl coenzyme A decarboxylase deficiency with a novel mutation.
    Cardiology in the young, 2021, Volume: 31, Issue:9

    Topics: Carboxy-Lyases; Humans; Infant, Newborn; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Mutation

2021
Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.
    International journal of molecular sciences, 2021, Nov-23, Volume: 22, Issue:23

    Topics: Carboxy-Lyases; Carnitine; Child, Preschool; Consanguinity; Homozygote; Humans; Male; Malonates; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Pedigree; Point Mutation

2021