ReviewJournal of inherited metabolic disease2012
The 3-methylglutaconic acidurias: what's new?
Review in Journal of inherited metabolic disease, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
What it found
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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
49 citing papers in PubMed.
- Searching for Metabolic Markers for Hypertension in Human Urine.Molecules (Basel, Switzerland) · 2026Article
- Advances in diagnosis of mitochondrial dysfunction and primary mitochondrial disease.Disease models & mechanisms · 2026Review
- Glutamatergic Neurotransmission Disruption as a Pathomechanism of Brain Damage in Disorders of Amino Acid and Organic Acid Metabolism: Insights from Animal and Cellular Studies.Neurochemical research · 2026Review
- YME1L1 Dysfunction Associated With 3-Methylglutaconic Aciduria.Journal of inherited metabolic disease · 2025Article
- Atypical MEGDHEL Syndrome: A Milder Phenotype With Hepatic Presentation and Failure to Thrive Associated With a Homozygous Nonsense Variant ofJIMD reports · 2025Article
- Asymptomatic 3-methylglutaconic aciduria type 1 detected by high C5-OH on newborn screening.Molecular genetics and metabolism reports · 2024Article
- Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases.Nutrients · 2023Review
- Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome.Frontiers in pediatrics · 2023Article
- 3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis.JIMD reports · 2022Article
- Review
- Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?Molecular genetics and metabolism reports · 2022Article
- Role of non-enzymatic chemical reactions in 3-methylglutaconic aciduria.The FEBS journal · 2022Article
- Diversion of Acetyl CoA to 3-Methylglutaconic Acid Caused by Discrete Inborn Errors of Metabolism.Metabolites · 2022Review
- Article
- Inborn errors of metabolism associated with 3-methylglutaconic aciduria.Clinica chimica acta; international journal of clinical chemistry · 2021Review
- Isomerization ofJIMD reports · 2021Article
- Barth syndrome: cardiolipin, cellular pathophysiology, management, and novel therapeutic targets.Molecular and cellular biochemistry · 2021Review
- Complicated Hereditary Spastic Paraplegia Caused byFrontiers in pediatrics · 2021Article
- 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
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The heterogeneous group of 3-methylglutaconic aciduria (3-MGA-uria) syndromes includes several inborn errors of metabolism biochemically characterized by increased urinary excretion of 3-methylglutaconic acid. Five distinct types have been recognized: 3-methylglutaconic aciduria type I is an inborn error of leucine catabolism; the additional four types all affect mitochondrial function through different pathomechanisms. We provide an overview of the expanding clinical spectrum of the 3-MGA-uria types and provide the newest insights into the underlying pathomechanisms. A diagnostic approach to the patient with 3-MGA-uria is presented, and we search for the connection between urinary 3-MGA excretion and mitochondrial dysfunction.
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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.