ArticleAmerican journal of human genetics2002
3-Methylglutaconic aciduria type I is caused by mutations in AUH.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 36 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
36 citing papers in PubMed, 73 citations in OpenAlex.
- Leucine catabolic enzyme AUH regulates BAT thermogenesis via PPARγ HMGylation and RNA-binding function in male mice.Nature communications · 2026Article
- APOE genotype influences on the brain metabolome of aging mice - role for mitochondrial energetics in mechanisms of resilience in APOE2 genotype.Molecular neurodegeneration · 2025Article
- Mitochondrial membrane synthesis, remodelling and cellular trafficking.Journal of inherited metabolic disease · 2025Review
- Asymptomatic 3-methylglutaconic aciduria type 1 detected by high C5-OH on newborn screening.Molecular genetics and metabolism reports · 2024Article
- Genetic outcomes in children with developmental language disorder: a systematic review.Frontiers in pediatrics · 2024Review
- N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report.JIMD reports · 2022Article
- Diversion of Acetyl CoA to 3-Methylglutaconic Acid Caused by Discrete Inborn Errors of Metabolism.Metabolites · 2022Review
- 3-Methylglutaconic Aciduria Type I Due toInternational journal of molecular sciences · 2022Review
- Inborn errors of metabolism associated with 3-methylglutaconic aciduria.Clinica chimica acta; international journal of clinical chemistry · 2021Review
- Acute Encephalopathic Presentation of 3-Methylglutaconic Aciduria Type I With a Novel Mutation in AUH Gene.Cureus · 2020Article
- Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novelMolecular genetics and metabolism reports · 2020Article
- A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole-exome sequencing.Experimental and therapeutic medicine · 2020Article
- 3-Methylglutaric acid in energy metabolism.Clinica chimica acta; international journal of clinical chemistry · 2020Review
- KPNA2-Associated Immune Analyses Highlight the Dysregulation and Prognostic Effects of GRB2, NRAS, and Their RNA-Binding Proteins in Hepatocellular Carcinoma.Frontiers in genetics · 2020Article
- Exposure to environmental radionuclides is associated with altered metabolic and immunity pathways in a wild rodent.Molecular ecology · 2019Article
- Interdigital Hyperplasia in Holstein Cattle Is Associated With a Missense Mutation in the Signal Peptide Region of the Tyrosine-Protein Kinase Transmembrane Receptor Gene.Frontiers in genetics · 2019Article
- Enoyl-CoA hydratase-1 regulates mTOR signaling and apoptosis by sensing nutrients.Nature communications · 2017Article
- Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.Movement disorders : official journal of the Movement Disorder Society · 2017Review
- Experimental Evidence that 3-Methylglutaric Acid Disturbs Mitochondrial Function and Induced Oxidative Stress in Rat Brain Synaptosomes: New Converging Mechanisms.Neurochemical research · 2016Article
- Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.Journal of inherited metabolic disease · 2015Article
Corrections and comments
- Erratum issued
Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
3-Methylglutaconic aciduria type I is an autosomal recessive disorder clinically characterized by various symptoms ranging from delayed speech development to severe neurological handicap. This disorder is caused by a deficiency of 3-methylglutaconyl-CoA hydratase, one of the key enzymes of leucine degradation. This results in elevated urinary levels of 3-methylglutaconic acid, 3-methylglutaric acid, and 3-hydroxyisovaleric acid. By heterologous expression in Escherichia coli, we show that 3-methylglutaconyl-CoA hydratase is encoded by the AUH gene, whose product had been reported elsewhere as an AU-specific RNA-binding protein. Mutation analysis of AUH in two patients revealed a nonsense mutation (R197X) and a splice-site mutation (IVS8-1G-->A), demonstrating that mutations in AUH cause 3-methylglutaconic aciduria type I.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.