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glutaric acid and Lipid Metabolism, Inborn Error

glutaric acid has been researched along with Lipid Metabolism, Inborn Error in 18 studies

glutaric acid: RN given refers to parent cpd
glutaric acid : An alpha,omega-dicarboxylic acid that is a linear five-carbon dicarboxylic acid.

Research Excerpts

ExcerptRelevanceReference
"Recurrent rhabdomyolysis has previously been reported in one patient with glutaric aciduria type I."7.72Rhabdomyolysis in glutaric aciduria type I. ( Chow, SL; Morris, AA; Rohan, C, 2003)
" Testing of 8 true positive MS MS samples correctly identified potentially pathogenic compound heterozygote genotypes in 2 cases of citrullinemia type 1 and one case each of methylmalonic acidemia, isobutyryl-CoA dehydrogenase deficiency, short chain acyl-CoA dehydrogenase deficiency and glutaric acid type II and heterozygous genotypes in 2 cases of autosomal dominant methioninemia."3.91A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism. ( Bai, J; Cram, DS; Gong, Y; Gu, W; Liu, Y; Mu, W; Wang, W; Wu, W; Xie, X; Xu, M; Xue, J; Yang, J; Zhang, X; Zhang, Y, 2019)
"Recurrent rhabdomyolysis has previously been reported in one patient with glutaric aciduria type I."3.72Rhabdomyolysis in glutaric aciduria type I. ( Chow, SL; Morris, AA; Rohan, C, 2003)
"Riboflavin and carnitine treatment corrected the metabolic abnormalities and she improved clinically."1.28Electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO) deficiency in an adult. ( Bell, RB; Brownell, AK; Engel, AG; Frerman, FE; Goodman, SI; Roe, CR; Seccombe, DW; Snyder, FF, 1990)
"Histology of the SIDS hearts was normal, but there was marked fatty deposition in the GAII heart."1.27Abnormal myocardial lipid composition in an infant with type II glutaric aciduria. ( Bennett, MJ; Cartwright, IJ; Galloway, JH, 1987)

Research

Studies (18)

TimeframeStudies, this research(%)All Research%
pre-19903 (16.67)18.7374
1990's7 (38.89)18.2507
2000's5 (27.78)29.6817
2010's3 (16.67)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Vargas, CR1
Ribas, GS1
da Silva, JM1
Sitta, A1
Deon, M1
de Moura Coelho, D1
Wajner, M1
Wang, W1
Yang, J1
Xue, J1
Mu, W1
Zhang, X1
Wu, W1
Xu, M1
Gong, Y1
Liu, Y1
Zhang, Y1
Xie, X1
Gu, W1
Bai, J1
Cram, DS1
Hackl, A1
Mehler, K1
Gottschalk, I1
Vierzig, A1
Eydam, M1
Hauke, J1
Beck, BB1
Liebau, MC1
Ensenauer, R1
Weber, LT1
Habbig, S1
Chow, SL1
Rohan, C1
Morris, AA1
Mühlhausen, C1
Christensen, E1
Schwartz, M1
Muschol, N1
Ullrich, K1
Lukacs, Z1
Boles, RG1
Buck, EA1
Blitzer, MG1
Platt, MS1
Cowan, TM1
Martin, SK1
Yoon, H1
Madsen, JA1
Reyes-Mugica, M1
Rinaldo, P3
Hostetler, MA1
Arnold, GL1
Mooney, R1
Bennett, MJ2
Roe, CR2
Tojo, M1
Gunji, T1
Yamaguchi, S1
Shimizu, N1
Koga, Y1
Nonaka, I1
Fujimoto, S1
Shibata, I1
Sugiyama, N1
Ohba, S1
Togari, H1
Wada, Y1
Vianey-Saban, C1
Bouvier, R1
Cochat, P1
Buenerd, A1
Divry, P2
Dumoulin, R1
Cordier, MP1
Freneaux, E1
Sheffield, VC1
Molin, L1
Shires, A1
Rhead, WJ1
Mongini, T1
Doriguzzi, C1
Palmucci, L1
De Francesco, A1
Bet, L1
Manfredi, L1
Ponzetto, C1
Bresolin, N1
Tomelleri, G1
Burlina, A1
Deotto, L1
Orrico, D1
Tonin, P1
Rizzuto, N1
Bell, RB1
Brownell, AK1
Engel, AG1
Goodman, SI1
Frerman, FE1
Seccombe, DW1
Snyder, FF1
Turnbull, DM1
Bartlett, K1
Watmough, NJ1
Shepherd, IM1
Sherratt, HS1
Vianey-Liaud, C1
Gregersen, N1
Mathieu, M1
Galloway, JH1
Cartwright, IJ1

Reviews

3 reviews available for glutaric acid and Lipid Metabolism, Inborn Error

ArticleYear
Mitochondrial fatty acid oxidation disorders and cyclic vomiting syndrome.
    Digestive diseases and sciences, 1999, Volume: 44, Issue:8 Suppl

    Topics: Acyl-CoA Dehydrogenases; Adolescent; Adult; Animals; Child; Child, Preschool; Diagnosis, Differentia

1999
Defects of fatty acid oxidation in skeletal muscle.
    Journal of inherited metabolic disease, 1987, Volume: 10 Suppl 1

    Topics: Acyl Coenzyme A; Carnitine; Carnitine O-Palmitoyltransferase; Chromatography, High Pressure Liquid;

1987
The inborn errors of mitochondrial fatty acid oxidation.
    Journal of inherited metabolic disease, 1987, Volume: 10 Suppl 1

    Topics: Carnitine; Diagnosis, Differential; Electron-Transferring Flavoproteins; Fatty Acid Desaturases; Fat

1987

Other Studies

15 other studies available for glutaric acid and Lipid Metabolism, Inborn Error

ArticleYear
Selective Screening of Fatty Acids Oxidation Defects and Organic Acidemias by Liquid Chromatography/tandem Mass Spectrometry Acylcarnitine Analysis in Brazilian Patients.
    Archives of medical research, 2018, Volume: 49, Issue:3

    Topics: Acyl-CoA Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic; Brazil; Car

2018
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
    BMC medical genetics, 2019, 01-06, Volume: 20, Issue:1

    Topics: Acyl-CoA Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Citrullinemia; Exome; Exome Sequencing

2019
Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities.
    Pediatric nephrology (Berlin, Germany), 2017, Volume: 32, Issue:5

    Topics: Adult; Electron-Transferring Flavoproteins; Fatal Outcome; Fatty Acids; Female; Glutarates; Humans;

2017
Rhabdomyolysis in glutaric aciduria type I.
    Journal of inherited metabolic disease, 2003, Volume: 26, Issue:7

    Topics: Child, Preschool; Electroencephalography; Fatal Outcome; Female; Glutarates; Humans; Lipid Metabolis

2003
Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.
    Journal of inherited metabolic disease, 2003, Volume: 26, Issue:7

    Topics: DNA Mutational Analysis; Female; Fibroblasts; Genotype; Glutarates; Glutaryl-CoA Dehydrogenase; Huma

2003
Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life.
    The Journal of pediatrics, 1998, Volume: 132, Issue:6

    Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Carnit

1998
Hypoketotic hypoglycemic coma in a 21-month-old child.
    Annals of emergency medicine, 1999, Volume: 34, Issue:3

    Topics: Acidosis; Age of Onset; Algorithms; Amino Acid Metabolism, Inborn Errors; Coma; Decision Trees; Diag

1999
[A case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)].
    No to hattatsu = Brain and development, 2000, Volume: 32, Issue:2

    Topics: Acyl-CoA Dehydrogenases; Biomarkers; Carnitine; Child; Electron-Transferring Flavoproteins; Fatty Ac

2000
Unique electroencephalographic change of acute encephalopathy in glutaric aciduria type 1.
    The Tohoku journal of experimental medicine, 2000, Volume: 191, Issue:1

    Topics: Acute Disease; Brain; Brain Injuries; Child; Electroencephalography; Glutarates; Humans; Lipid Metab

2000
Antenatal expression of multiple acyl-CoA dehydrogenase deficiency.
    Journal of inherited metabolic disease, 2000, Volume: 23, Issue:4

    Topics: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Cells, Cultured; Electron-Transferring Flavoprotein

2000
Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients.
    The Journal of clinical investigation, 1992, Volume: 90, Issue:5

    Topics: Amino Acid Metabolism, Inborn Errors; Base Sequence; Cells, Cultured; DNA; Electron-Transferring Fla

1992
Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: an adult case.
    European neurology, 1992, Volume: 32, Issue:3

    Topics: Acyl-CoA Dehydrogenases; Adult; Biopsy; Creatine Kinase; Female; Glutarates; Humans; Lipid Metabolis

1992
[Myopathy with lipid accumulation and type-II glutaric aciduria].
    Minerva pediatrica, 1991, Volume: 43, Issue:3

    Topics: Adolescent; Fatty Acid Desaturases; Female; Flavin-Adenine Dinucleotide; Glutarates; Humans; Lipid M

1991
Electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO) deficiency in an adult.
    Neurology, 1990, Volume: 40, Issue:11

    Topics: Acidosis; Adult; Carnitine; Electron-Transferring Flavoproteins; Fatty Acid Desaturases; Female; Glu

1990
Abnormal myocardial lipid composition in an infant with type II glutaric aciduria.
    Journal of lipid research, 1987, Volume: 28, Issue:3

    Topics: Fatty Acids; Glutarates; Humans; Infant; Lipid Metabolism; Lipid Metabolism, Inborn Errors; Myocardi

1987