Compounds > 3-methylglutaconic acid
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3-methylglutaconic acid and Mitochondrial Diseases

3-methylglutaconic acid has been researched along with Mitochondrial Diseases in 8 studies

Research

Studies (8)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's3 (37.50)29.6817
2010's4 (50.00)24.3611
2020's1 (12.50)2.80

Authors

AuthorsStudies
Banerjee, R; Cooper, H; Fellman, V; Kallijärvi, J; Lin, KL; Pulli, I; Tyynismaa, H1
Antonetti, G; Boenzi, S; Carrozzo, R; Catesini, G; Diodato, D; Dionisi-Vici, C; Martinelli, D; Olivieri, G; Rizzo, C; Sacchetti, E; Semeraro, M1
Ikon, N; Ryan, RO1
de Vries, MC; Engelke, UF; Heldt, K; Huizing, M; Jonckheere, A; Kluijtmans, LA; Morava, E; Rodenburg, RJ; Smeitink, JA; van den Heuvel, LP; Wendel, U; Wevers, RA; Wortmann, SB1
Duszynski, J; Jurkiewicz, E; Karkucinska-Wieckowska, A; Lebiedzinska, M; Pajdowska, M; Pinton, P; Pronicka, E; Pronicki, M; Suski, J; Szymanska-Debinska, T; Trubicka, J; Wieckowski, MR1
Alkuraya, FS; de Vries, MC; Isohanni, P; Kleefstra, T; Kluijtmans, LA; Morava, E; Nouws, J; Reinecke, CJ; Rodenburg, RJ; Sass, JO; Smeitink, JA; Smuts, I; Thorburn, D; Tranebjaerg, L; van der Westhuizen, FH; van Kaauwen, EP; Walter, K; Wevers, RA; Wortmann, SB1
Gunay-Aygun, M1
de Koning, T; Engelke, U; Huizing, M; Kluijtmans, LA; Loupatty, FJ; Morava, E; Rodenburg, RJ; Smeitink, JA; Wevers, R; Wortmann, S1

Reviews

1 review(s) available for 3-methylglutaconic acid and Mitochondrial Diseases

ArticleYear
3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features.
    Molecular genetics and metabolism, 2005, Volume: 84, Issue:1

    Topics: Abnormalities, Multiple; Acetyl Coenzyme A; Amino Acid Metabolism, Inborn Errors; Glutarates; Humans; Hydro-Lyases; Leucine; Mitochondrial Diseases; Sterols

2005

Other Studies

7 other study(ies) available for 3-methylglutaconic acid and Mitochondrial Diseases

ArticleYear
Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1.
    Biochimica et biophysica acta. Molecular basis of disease, 2022, 01-01, Volume: 1868, Issue:1

    Topics: Calcium; Carboxylic Ester Hydrolases; Cholesterol; Endoplasmic Reticulum; Female; Glutarates; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Mitochondria, Liver; Mitochondrial Diseases; Whole Genome Sequencing

2022
The urinary organic acids profile in single large-scale mitochondrial DNA deletion disorders.
    Clinica chimica acta; international journal of clinical chemistry, 2018, Volume: 481

    Topics: 3-Hydroxybutyric Acid; Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Child; Child, Preschool; Congenital Bone Marrow Failure Syndromes; DNA, Mitochondrial; Fumarates; Glutarates; Humans; Hydroxybutyrates; Infant; Kearns-Sayre Syndrome; Lactic Acid; Lipid Metabolism, Inborn Errors; Mitochondrial Diseases; Muscular Diseases; Pyruvic Acid; Retrospective Studies; Valerates

2018
On the origin of 3-methylglutaconic acid in disorders of mitochondrial energy metabolism.
    Journal of inherited metabolic disease, 2016, Volume: 39, Issue:5

    Topics: Acetyl Coenzyme A; Energy Metabolism; Glutarates; Humans; Mitochondria; Mitochondrial Diseases

2016
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.
    Brain : a journal of neurology, 2009, Volume: 132, Issue:Pt 1

    Topics: Adenosine Triphosphatases; Brain; Brain Diseases, Metabolic, Inborn; Cardiomyopathies; Carrier Proteins; DNA Polymerase gamma; DNA-Directed DNA Polymerase; Facies; Female; Glutarates; Humans; Infant, Newborn; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Membrane Proteins; Metabolism, Inborn Errors; Mitochondrial Diseases; Mitochondrial Proteins; Mitochondrial Proton-Translocating ATPases; Mutation; Phenotype; Ryanodine Receptor Calcium Release Channel

2009
Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria).
    Folia neuropathologica, 2011, Volume: 49, Issue:1

    Topics: Catalase; Child, Preschool; Deafness; Female; Fibroblasts; Glutarates; Hearing Loss, Sensorineural; Humans; Leigh Disease; Mitochondrial Diseases; Reactive Oxygen Species

2011
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.
    Journal of inherited metabolic disease, 2013, Volume: 36, Issue:6

    Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; DNA Mutational Analysis; Glutarates; Humans; Metabolism, Inborn Errors; Mitochondrial Diseases; Netherlands; Retrospective Studies; Urinalysis

2013
Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation.
    Molecular genetics and metabolism, 2006, Volume: 88, Issue:1

    Topics: Adolescent; Brain Diseases, Metabolic; Child; Child, Preschool; Consanguinity; Fatal Outcome; Female; Glutarates; Hearing Loss, Sensorineural; Humans; Infant, Newborn; Leigh Disease; Male; Mitochondrial Diseases; Oxidative Phosphorylation; Syndrome; Valerates

2006