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3-methylglutaconic acid and Amino Acid Metabolism Disorders, Inborn

3-methylglutaconic acid has been researched along with Amino Acid Metabolism Disorders, Inborn in 34 studies

Research

Studies (34)

Timeframe	Studies, this research(%)	All Research%
pre-1990	6 (17.65)	18.7374
1990's	11 (32.35)	18.2507
2000's	11 (32.35)	29.6817
2010's	6 (17.65)	24.3611
2020's	0 (0.00)	2.80

Authors

Authors	Studies
Caruso, U; Cassanello, M; D'Onofrio, V; Enea, A; Garrone, G; Guala, G; Poma, F; Porta, F; Puccinelli, P; Santarelli, F; Spada, M	1
Anikster, Y; Dorward, H; Feldman, B; Gahl, WA; Huizing, M; Kleta, R; Klootwijk, E; Ly, L; Pei, W; Skovby, F	1
Anikster, Y; Bernardini, I; Burgess, HA; Ciccone, C; Dorward, H; Feldman, B; Huizing, M; Kelley, RI; Kratz, LE; Pei, W; Sood, R; Yokogawa, T	1
Morava, E; Wortmann, SB	1
Bekheirnia, MR; Dhar, SU; Eble, T; Scaglia, F; Shaibani, A; Willis, A; Wong, LJ; Zhang, W	1
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, SB	1
Anikster, Y; Christensen, E; Gahl, WA; Kleta, R; Rosenberg, T; Skovby, F	1
Buckel, W; Carpenter, K; Ensenauer, R; Gibson, KM; Hoffmann, GF; Liesert, M; Ly, TB; Mack, M; Peters, V; Wilcken, B; Zschocke, J	1
Das, AM; Gibson, KM; Illsinger, S; Lücke, T; Zschocke, J	1
Gunay-Aygun, M	1
Baric, I; Bennetts, B; Carpenter, K; Christodoulou, J; Kelley, R; Kirk, EP; Neas, K; White, R; Wilson, M	1
Engelke, UF; Kluijtmans, LA; Kremer, B; Loss, S; Loupatty, FJ; Morava, E; Moskau, D; van den Bergh, E; van der Graaf, M; Wanders, RJ; Wevers, RA	1
Buckel, W; Hoffmann, GF; Liesert, M; Mack, M; Peters, V; Schniegler-Mattox, U; Zschocke, J	1
Bertini, E; Boenzi, S; Carrozzo, R; D'Amico, A; Deodato, F; Di Rosa, G; Dionisi-Vici, C; Loupatty, FJ; Maiorana, A; Rizzo, C; Santorelli, FM; Tozzi, G; Wanders, RJ	1
Eriguchi, M; Hasegawa, Y; Kosugi, M; Kuroda, Y; Kurohara, K; Mizuta, H; Okada, R; Yakushiji, Y; Yamaguchi, S; Yukitake, M	1
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, W	1
Beemer, FA; Bruinvis, L; Duran, M; Ketting, D; Tibosch, AS; Wadman, SK	1
Berry, HK; Denton, MD; Norman, EJ	1
Kuhara, T; Matsumoto, I; Matsuo, M; Shinka, T	1
Lerman-Sagie, T	1
Besley, GT; Broadhead, DM; Heptinstall, LE; Lendon, M; Phillips, B; Till, J	1
Brown, G; Johnson, A; Land, JM; Ostman-Smith, I	1
Yoshida, I	2
Galle, PR; Holtmann, MH; Mayatepek, E; Stremmel, W	1
Borrone, C; Caruso, U; Di Rocco, M; Fantasia, AR; Gibson, KM; Lamantea, E; Lupino, S; Moroni, I	1
Arbelaez, A; Castillo, M; Stone, J	1
Brandis, M; Ensenauer, R; Gibson, KM; Lehnert, W; Müller, CB; Schwab, KO	1
Chalmers, RA; Halliday, D; Thompson, GN	1
Bachmann, C; Barth, PG; Dianzani, I; Gibson, KM; Hoffman, GF; Schrynemackers-Pitance, P; Schutgens, RB; Sherwood, WG; Stumpf, DA; Weismann, U	1
Amir, N; Barash, V; Elpeleg, ON; Hurwitz, Y; Meiron, D; Tal, I	1
Cartigny, B; Dubos, JP; Farriaux, JP; Gibson, KM; Largilliere, C; Nuyts, JP; Vallee, L	1
Lehnert, W; Scharf, J; Wendel, U	1
Duran, M; Gibson, KM; Narisawa, K; Nyhan, WL; Sweetman, L; Wadman, SK	1

Reviews

3 review(s) available for 3-methylglutaconic acid and Amino Acid Metabolism Disorders, Inborn

Article	Year
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
[3-Methylglutaconyl-CoA hydratase deficiency]. Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1 Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Glutarates; Humans; Hydro-Lyases; Leucine; Prognosis	1998
[Methylglutaconic aciduria (normal hydratase, unspecified)]. Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1 Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Glutarates; Humans; Leucine; Mevalonic Acid; Prognosis	1998

Other Studies

31 other study(ies) available for 3-methylglutaconic acid and Amino Acid Metabolism Disorders, Inborn

Article	Year
A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency. Italian journal of pediatrics, 2013, May-24, Volume: 39 Topics: Acetyl-CoA C-Acetyltransferase; Acidosis; Acute Disease; Amino Acid Metabolism, Inborn Errors; Glutarates; Glycine; Humans; Hypoglycemia; Infant, Newborn; Male; Meglutol	2013
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. Molecular genetics and metabolism, 2010, Volume: 100, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Exons; Glutarates; Humans; Mitochondria; Molecular Sequence Data; Optic Atrophies, Hereditary; Proteins; Sequence Alignment	2010
A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3. Development (Cambridge, England), 2010, Aug-01, Volume: 137, Issue:15 Topics: Acyl Coenzyme A; Alleles; Amino Acid Metabolism, Inborn Errors; Animals; Disease Models, Animal; Electron Transport; Glutarates; Membrane Proteins; Mitochondria; Models, Biological; Models, Genetic; Optic Atrophy; Phosphorylation; Proteins; Zebrafish; Zebrafish Proteins	2010
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
POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria. Gene, 2012, May-10, Volume: 499, Issue:1 Topics: Age of Onset; Amino Acid Metabolism, Inborn Errors; Cataract; DNA Mutational Analysis; DNA Polymerase gamma; DNA-Directed DNA Polymerase; Female; Glutarates; Humans; Models, Molecular; Muscle Weakness; Muscular Atrophy; Mutation; Ovarian Diseases; Ovary; Young Adult	2012
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
3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings. Molecular genetics and metabolism, 2002, Volume: 76, Issue:3 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Base Sequence; DNA; Glutarates; Humans; Jews; Magnetic Resonance Imaging; Male	2002
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. Human mutation, 2003, Volume: 21, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child, Preschool; Exons; Genes, Recessive; Glutarates; Humans; Hydro-Lyases; Infant, Newborn; Intellectual Disability; Language Development Disorders; Male; Mutation; Neonatal Screening	2003
3-methylglutaconic aciduria type I in a boy with fever-associated seizures. Pediatric neurology, 2004, Volume: 30, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Diagnosis, Differential; DNA Mutational Analysis; Enoyl-CoA Hydratase; Fibroblasts; Follow-Up Studies; Glutarates; Heterozygote; Homozygote; Humans; Hydro-Lyases; Introns; Male; Phenotype; Recurrence; RNA Splice Sites; RNA-Binding Proteins; Seizures, Febrile; Valerates	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
NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism. NMR in biomedicine, 2006, Volume: 19, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Brain; Female; Glutarates; Humans; Leucine; Magnetic Resonance Spectroscopy; Meglutol; Middle Aged; Valerates	2006
Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism. The FEBS journal, 2006, Volume: 273, Issue:9 Topics: Acyl Coenzyme A; Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Cloning, Molecular; Escherichia coli; Fibroblasts; Glutarates; Humans; Hydro-Lyases; Kinetics; Leucine; Mutation; Substrate Specificity	2006
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria. Journal of inherited metabolic disease, 2006, Volume: 29, Issue:4 Topics: Acidosis, Lactic; Amino Acid Metabolism, Inborn Errors; Brain; Cardiomyopathy, Hypertrophic; Cataract; Developmental Disabilities; Family Health; Female; Glutarates; Humans; Infant; Infant, Newborn; Magnetic Resonance Imaging; Male; Pedigree	2006
3-Methylglutaconic aciduria type I causes leukoencephalopathy of adult onset. Neurology, 2006, Nov-28, Volume: 67, Issue:10 Topics: Amino Acid Metabolism, Inborn Errors; Brain; Brain Diseases, Metabolic, Inborn; Cognition Disorders; Dementia, Vascular; DNA Mutational Analysis; Enoyl-CoA Hydratase; Female; Glutarates; Humans; Magnetic Resonance Imaging; Middle Aged; Mutation; Nerve Fibers, Myelinated; Reflex, Abnormal; RNA-Binding Proteins	2006
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
Inherited 3-methylglutaconic aciduria in two brothers--another defect of leucine metabolism. The Journal of pediatrics, 1982, Volume: 101, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Glutarates; Humans; Hydro-Lyases; Leucine; Male; Meglutol; Speech Disorders; Valerates	1982
Gas-chromatographic/mass spectrometric detection of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in double first cousins. Clinical chemistry, 1982, Volume: 28, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Female; Gas Chromatography-Mass Spectrometry; Glutarates; Humans; Hydroxy Acids; Infant; Leucine; Male; Meglutol; Oxo-Acid-Lyases; Valerates	1982
Increased excretion of lactate, glutarate, 3-hydroxyisovalerate and 3-methylglutaconate during clinical episodes of propionic acidemia. Clinica chimica acta; international journal of clinical chemistry, 1982, Aug-04, Volume: 123, Issue:1-2 Topics: Amino Acid Metabolism, Inborn Errors; Carboxy-Lyases; Female; Gas Chromatography-Mass Spectrometry; Glutarates; Humans; Infant, Newborn; Lactates; Lactic Acid; Methylmalonyl-CoA Decarboxylase; Propionates; Valerates	1982
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
Mitochondrial complex deficiencies in a male with cardiomyopathy and 3-methylglutaconic aciduria. Journal of inherited metabolic disease, 1995, Volume: 18, Issue:2 Topics: Amino Acid Metabolism, Inborn Errors; Cardiomyopathies; Child; DNA Mutational Analysis; Electron Transport; Fatal Outcome; Glutarates; Humans; Male; Mitochondria, Muscle; Mitochondrial Myopathies	1995
Dilated cardiomyopathy due to type II X-linked 3-methylglutaconic aciduria: successful treatment with pantothenic acid. British heart journal, 1994, Volume: 72, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Cardiomyopathy, Dilated; Electrocardiography; Genetic Linkage; Glutarates; Humans; Infant, Newborn; Male; Pantothenic Acid; X Chromosome	1994
3-Methylglutaconic aciduria associated with hepatosplenomegaly, macrocytic anaemia, fever episodes, recurrent infections, cervical lymphadenopathy and progressive decrease of physical performance. Journal of inherited metabolic disease, 1998, Volume: 21, Issue:6 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Anemia, Macrocytic; Fatigue; Female; Fever; Glutarates; Hepatomegaly; Humans; Infections; Lymphatic Diseases; Neck; Splenomegaly	1998
3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease. Journal of inherited metabolic disease, 1999, Volume: 22, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Glutarates; Humans; Leigh Disease; Male; Methionine; Skull; Tomography, X-Ray Computed	1999
MRI in 3-methylglutaconic aciduria type 1. Neuroradiology, 1999, Volume: 41, Issue:12 Topics: Amino Acid Metabolism, Inborn Errors; Brain; Child, Preschool; Female; Glutarates; Humans; Magnetic Resonance Imaging	1999
3-Methylglutaconyl-CoA hydratase deficiency: a new patient with speech retardation as the leading sign. Journal of inherited metabolic disease, 2000, Volume: 23, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Diet, Protein-Restricted; Fibroblasts; Glutarates; Humans; Hydro-Lyases; Meglutol; Speech Disorders; Valerates	2000
The contribution of protein catabolism to metabolic decompensation in 3-hydroxy-3-methylglutaric aciduria. European journal of pediatrics, 1990, Volume: 149, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Child; Diseases in Twins; Female; Glutarates; Humans; Leucine; Male; Meglutol; Oxo-Acid-Lyases; Phenylalanine; Proteins; Valerates	1990
Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria. The Journal of pediatrics, 1991, Volume: 118, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Coenzyme A; Glutarates; Humans; Hydroxymethylglutaryl CoA Reductases; Meglutol; Phenotype	1991
3-Methylglutaconic aciduria with persistent metabolic acidosis and 'uncoupling episodes'. Journal of inherited metabolic disease, 1990, Volume: 13, Issue:2 Topics: Acidosis; Acidosis, Lactic; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Food, Formulated; Glutarates; Humans; Male; Mitochondria, Muscle	1990
3-Methylglutaconic aciduria: neonatal onset with lactic acidosis. Journal of inherited metabolic disease, 1989, Volume: 12, Issue:3 Topics: Acidosis, Lactic; Amino Acid Metabolism, Inborn Errors; Female; Glutarates; Humans; Infant, Newborn	1989
3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiency. European journal of pediatrics, 1985, Volume: 143, Issue:4 Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Female; Fibroblasts; Glutarates; Humans; Hydro-Lyases; Infant; Intellectual Disability; Meglutol; Muscle Hypotonia; Skin	1985
Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria. The Journal of clinical investigation, 1986, Volume: 77, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Cattle; Chromatography, High Pressure Liquid; Glutarates; Humans; Hydro-Lyases; Hydrogen-Ion Concentration; Kinetics; Male; Menotropins	1986