Page last updated: 2024-08-26

3-methylglutaconic acid and Symptom Cluster

3-methylglutaconic acid has been researched along with Symptom Cluster in 24 studies

Research

Studies (24)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's11 (45.83)18.2507
2000's12 (50.00)29.6817
2010's1 (4.17)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Morava, E; Wortmann, SB1
Bateman, C1
Burlina, AB; Catuogno, S; Pellegrino, P; Prioli, MD; Rugolotto, S; Toniolo, D1
Blanck, TJ; DiMauro, S; Feigenbaum, A; Heerdt, PM; Kelley, RI; Schieble, T; Schlame, M; Towbin, JA; Wanders, RJ1
Birkebaek, N; Gonzalez, I; Schmidt, MR; Sunde, L1
Baric, I; Bennetts, B; Carpenter, K; Christodoulou, J; Kelley, R; Kirk, EP; Neas, K; White, R; Wilson, M1
de Koning, T; Engelke, U; Huizing, M; Kluijtmans, LA; Loupatty, FJ; Morava, E; Rodenburg, RJ; Smeitink, JA; Wevers, R; Wortmann, S1
Henry, AE; Kelly, RI; Mazzocco, MM1
Boulton, ME; Brownstein, DG; Davies, JR; Davies, VJ; Hogan, V; Hollins, AJ; Moat, SJ; Nichols, PP; Piechota, M; Powell, KA; Votruba, M; White, KE; Wride, MA; Yip, W1
Blazek, G; Finsterer, J; Stollberger, C1
Costeff, H; Elpeleg, ON; Gibson, KM; Joseph, A; Shental, Y; Weitz, R1
Lerman-Sagie, T1
Kelley, RI; Kratz, L1
Apter, N; Costeff, H; Divry, P; Elpeleg, O; Gadoth, N1
Cox, GF; Feigenbaum, A; Funanage, VL; Iyer, GS; Johnston, J; Kelley, RI; Proujansky, R1
Cardonick, EH; Ganz, E; Kuhlman, K; Pagotto, LT1
Barth, PG; Vreken, P; Wanders, RJ1
Allen, JT; Cantlay, AM; Lunt, PW; Newbury-Ecob, RA; Shokrollahi, K; Steward, CG1
Kelley, RI; Mazzocco, MM1
Anikster, Y; Elpeleg, O; Gahl, WA; Kleta, R; Shaag, A1
Iinuma, K; Kitoh, T; Ohura, T; Ohya, N; Sakamoto, O1
Ben-Ezra, D; Elpeleg, ON; Raz, J; Sheffer, RN; Zlotogora, J1
Bennett, MJ; Gibson, KM; Jakobs, C; Lichter-Konecki, U; Mize, CE; Munnich, A; Rotig, A; Trefz, FK1
Cheatham, JP; Clark, BJ; Kelley, RI; Nigro, MA; Powell, BR; Sherwood, GW; Sladky, JT; Swisher, WP1

Reviews

1 review(s) available for 3-methylglutaconic acid and Symptom Cluster

ArticleYear
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome)-MIM 302060.
    The Journal of pediatrics, 1999, Volume: 135, Issue:3

    Topics: Cardiomyopathy, Dilated; Child; Genetic Linkage; Glutarates; Growth Disorders; Humans; Male; Mitochondrial Myopathies; Mutation; Neutropenia; Syndrome; X Chromosome

1999

Other Studies

23 other study(ies) available for 3-methylglutaconic acid and Symptom Cluster

ArticleYear
3-methylglutaconic aciduria type IV: a syndrome with an evolving phenotype.
    Clinical dysmorphology, 2011, Volume: 20, Issue:3

    Topics: Abnormalities, Multiple; Amino Acid Metabolism, Inborn Errors; Glutarates; Humans; Phenotype; Syndrome

2011
Little known killer: Barth syndrome.
    South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 2003, Volume: 93, Issue:4

    Topics: Acyltransferases; Cardiomyopathies; Child; Genetic Diseases, X-Linked; Glutarates; Growth Disorders; Humans; Male; Muscle Weakness; Neutropenia; Pedigree; Proteins; Syndrome; Transcription Factors

2003
Long-term treatment of Barth syndrome with pantothenic acid: a retrospective study.
    Molecular genetics and metabolism, 2003, Volume: 80, Issue:4

    Topics: Acyltransferases; Adolescent; Cardiomyopathy, Dilated; Child; Child, Preschool; Follow-Up Studies; Glutarates; Granulocyte Colony-Stimulating Factor; Heart Transplantation; Humans; Infant; Male; Mutation; Neutropenia; Pantothenic Acid; Proteins; Retrospective Studies; Syndrome; Transcription Factors; Treatment Failure

2003
Phospholipid abnormalities in children with Barth syndrome.
    Journal of the American College of Cardiology, 2003, Dec-03, Volume: 42, Issue:11

    Topics: Acyltransferases; Blood Platelets; Cardiolipins; Cardiomyopathies; Fibroblasts; Glutarates; Growth Disorders; Heart Ventricles; Lymphocytes; Muscle, Skeletal; Muscular Diseases; Mutation; Myocardium; Neutropenia; Phospholipids; Proteins; Syndrome; Transcription Factors

2003
Barth syndrome without 3-methylglutaconic aciduria.
    Acta paediatrica (Oslo, Norway : 1992), 2004, Volume: 93, Issue:3

    Topics: Arginine; Cardiomyopathies; Chromosomes, Human, X; Fatal Outcome; Glutarates; Glycine; Humans; Infant, Newborn; Male; Muscular Diseases; Mutation; Mutation, Missense; Pedigree; Syndrome

2004
OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria.
    Journal of inherited metabolic disease, 2005, Volume: 28, Issue:4

    Topics: 5' Untranslated Regions; Adolescent; Alleles; Amino Acid Metabolism, Inborn Errors; Base Sequence; Child; Child, Preschool; Cohort Studies; Developmental Disabilities; DNA Mutational Analysis; Genetic Variation; Glutarates; Heterozygote; Homozygote; Humans; Infant, Newborn; Middle Aged; Molecular Sequence Data; Mutation; Phenotype; Proteins; Reverse Transcriptase Polymerase Chain Reaction; Syndrome

2005
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
Barth syndrome is associated with a cognitive phenotype.
    Journal of developmental and behavioral pediatrics : JDBP, 2007, Volume: 28, Issue:1

    Topics: Cardiomyopathy, Dilated; Child; Child, Preschool; Cholesterol; Cognition Disorders; Genotype; Glutarates; Growth Disorders; Humans; Male; Musculoskeletal Diseases; Neuropsychological Tests; Neutropenia; Phenotype; Severity of Illness Index; Syndrome

2007
A missense mutation in the murine Opa3 gene models human Costeff syndrome.
    Brain : a journal of neurology, 2008, Volume: 131, Issue:Pt 2

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Animals; Base Sequence; Brain; Cardiomyopathy, Dilated; Disease Models, Animal; Glutarates; Humans; Mice; Mice, Inbred C3H; Molecular Sequence Data; Mutation, Missense; Optic Atrophy, Autosomal Dominant; Optic Nerve; Phenotype; Point Mutation; Proteins; Retinal Ganglion Cells; Reverse Transcriptase Polymerase Chain Reaction; Spinal Cord; Syndrome; Transcription, Genetic; Visual Acuity

2008
Prevalence of Barth syndrome in adult left ventricular hypertrabeculation / noncompaction.
    Scandinavian cardiovascular journal : SCJ, 2008, Volume: 42, Issue:2

    Topics: Adult; Cardiomyopathy, Dilated; Comorbidity; Female; Genetic Diseases, X-Linked; Glutarates; Heart Ventricles; Humans; Leukocyte Count; Male; Neuromuscular Diseases; Neutropenia; Retrospective Studies; Syndrome

2008
3-Methylglutaconic aciduria in the Iraqi-Jewish 'optic atrophy plus' (Costeff) syndrome.
    Developmental medicine and child neurology, 1994, Volume: 36, Issue:2

    Topics: Adolescent; Adult; Child; Child, Preschool; Cognition Disorders; Female; Glutarates; Humans; Iraq; Jews; Male; Meglutol; Movement Disorders; Optic Atrophy; Syndrome

1994
Behr syndrome.
    Pediatric neurology, 1995, Volume: 12, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic; Child; Glutarates; Humans; Meglutol; Optic Atrophy; Syndrome

1995
3-methylglutaconic acidemia in Smith-Lemli-Opitz syndrome.
    Pediatric research, 1995, Volume: 37, Issue:5

    Topics: Adolescent; Child; Cholesterol; Dehydrocholesterols; Glutarates; Humans; Lipid Metabolism, Inborn Errors; Syndrome

1995
3-Methylglutaconic aciduria in "optic atrophy plus".
    Annals of neurology, 1993, Volume: 33, Issue:1

    Topics: Adolescent; Adult; Ataxia; Child; Female; Glutarates; Humans; Male; Optic Atrophy; Paraplegia; Syndrome

1993
Mutation characterization and genotype-phenotype correlation in Barth syndrome.
    American journal of human genetics, 1997, Volume: 61, Issue:5

    Topics: Acyltransferases; Cardiomyopathies; DNA Mutational Analysis; DNA Primers; Genetic Linkage; Genetic Markers; Genotype; Glutarates; Humans; Lymphocytes; Male; Mutation; Neutropenia; Pedigree; Phenotype; Polymerase Chain Reaction; Proteins; RNA Splicing; Sequence Analysis, DNA; Syndrome; Transcription Factors; X Chromosome

1997
Prenatal clinical expression of 3-methylglutaconic aciduria: Barth syndrome.
    Prenatal diagnosis, 1997, Volume: 17, Issue:10

    Topics: Adult; Female; Fetal Heart; Follow-Up Studies; Glutarates; Humans; Male; Pregnancy; Pregnancy Complications, Cardiovascular; Pregnancy Outcome; Syndrome; Ultrasonography, Prenatal; Ventricular Dysfunction, Left

1997
Genetic analysis of the G4.5 gene in families with suspected Barth syndrome.
    The Journal of pediatrics, 1999, Volume: 135, Issue:3

    Topics: Cardiomyopathy, Dilated; DNA Mutational Analysis; Failure to Thrive; Genetic Linkage; Glutarates; Humans; Infant; Infant, Newborn; Male; Mitochondrial Myopathies; Mutagenesis, Insertional; Mutation, Missense; Neutropenia; Pedigree; Syndrome; X Chromosome

1999
Preliminary evidence for a cognitive phenotype in Barth syndrome.
    American journal of medical genetics, 2001, Sep-01, Volume: 102, Issue:4

    Topics: Child; Child, Preschool; Cognition Disorders; Female; Genetics, Behavioral; Glutarates; Growth Disorders; Humans; Intelligence Tests; Male; Muscle, Skeletal; Muscular Diseases; Myocardium; Neutropenia; Phenotype; Syndrome

2001
Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.
    American journal of human genetics, 2001, Volume: 69, Issue:6

    Topics: Amino Acid Sequence; Base Sequence; Cloning, Molecular; Conserved Sequence; DNA Mutational Analysis; Exons; Female; Founder Effect; Gene Expression Profiling; Genetic Testing; Glutarates; Humans; Introns; Iraq; Jews; Male; Molecular Sequence Data; Open Reading Frames; Optic Atrophies, Hereditary; Point Mutation; Proteins; RNA, Messenger; Syndrome

2001
Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.
    Journal of human genetics, 2002, Volume: 47, Issue:5

    Topics: Acyltransferases; Cardiomyopathy, Dilated; DNA Mutational Analysis; DNA Primers; DNA-Binding Proteins; Glutarates; Humans; Infant; Japan; Male; Muscular Diseases; Mutation; Mutation, Missense; Neutropenia; Polymerase Chain Reaction; Proteins; Syndrome; Transcription Factors; X Chromosome

2002
Behr's syndrome and 3-methylglutaconic aciduria.
    American journal of ophthalmology, 1992, Oct-15, Volume: 114, Issue:4

    Topics: Child; Child, Preschool; Female; Glutarates; Humans; Infant; Jews; Male; Meglutol; Nervous System Diseases; Nystagmus, Pathologic; Optic Atrophies, Hereditary; Syndrome; Visual Acuity

1992
3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects.
    The Journal of pediatrics, 1992, Volume: 121, Issue:6

    Topics: Acidosis, Lactic; Anemia, Aplastic; Biomarkers; Child, Preschool; DNA, Mitochondrial; Electron Transport; Female; Gene Deletion; Glutarates; Humans; Hydro-Lyases; Infant; Male; Mitochondria; Neutropenia; Syndrome; Thrombocytopenia

1992
X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria.
    The Journal of pediatrics, 1991, Volume: 119, Issue:5

    Topics: Adult; Cardiomyopathy, Dilated; Child; Child, Preschool; Chromatography, High Pressure Liquid; Fumarates; Glutarates; Growth Disorders; Heart Failure; Humans; Male; Meglutol; Muscular Diseases; Neutropenia; Pedigree; Syndrome; X Chromosome

1991