ReviewJournal of inherited metabolic disease2013
Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation.
Review in Journal of inherited metabolic disease, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 60 citations in OpenAlex.
- Historical Perspectives, Classification and Diagnostic Approaches of Inborn Errors of Metabolism: A Systematic Review and Meta-Analysis.Metabolites · 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
- Metabolic toxicity and neurological dysfunction in methylmalonic acidemia: from mechanisms to therapeutics.Molecular medicine (Cambridge, Mass.) · 2025Review
- Real-World Experience of Carglumic Acid for Methylmalonic and Propionic Acidurias: An Interim Analysis of the Multicentre Observational PROTECT Study.Drugs in R&D · 2024Observational
- Review
- Hyperammonemia in Inherited Metabolic Diseases.Cellular and molecular neurobiology · 2022Review
- Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.Metabolic brain disease · 2022Review
- Classification of Dystonia.Life (Basel, Switzerland) · 2022Review
- Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience.Frontiers in endocrinology · 2022Review
- Long-term N-carbamylglutamate treatment of hyperammonemia in patients with classic organic acidemias.Molecular genetics and metabolism reports · 2021Article
- Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China.Frontiers in genetics · 2021Article
- Neurological manifestations of organic acidurias.Nature reviews. Neurology · 2019Review
- Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories.Orphanet journal of rare diseases · 2018Review
- Implications of PI3K/AKT/PTEN Signaling on Superoxide Dismutases Expression and in the Pathogenesis of Alzheimer's Disease.Diseases (Basel, Switzerland) · 2018Review
- "Classical organic acidurias": diagnosis and pathogenesis.Clinical and experimental medicine · 2017Review
- Integration of Proteomics and Metabolomics in Exploring Genetic and Rare Metabolic Diseases.Kidney diseases (Basel, Switzerland) · 2017Review
- Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.Journal of inherited metabolic disease · 2017Article
- Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases.Experimental and therapeutic medicine · 2017Article
- Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.The Journal of biological chemistry · 2016Article
- Mass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic Acidemias.BioMed research international · 2016Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This review focuses on the pathophysiology of organic acidurias (OADs), in particular, OADs caused by deficient amino acid metabolism. OADs are termed classical if patients present with acute metabolic decompensation and multiorgan dysfunction or cerebral if patients predominantly present with neurological symptoms but without metabolic crises. In both groups, however, the brain is the major target. The high energy demand of the brain, the gate-keeping function of the blood-brain barrier, a high lipid content, vulnerable neuronal subpopulations, and glutamatergic neurotransmission all make the brain particularly vulnerable against mitochondrial dysfunction, oxidative stress, and excitotoxicity. In fact, toxic metabolites in OADs are thought to cause secondary impairment of energy metabolism; some of these toxic metabolites are trapped in the brain. In contrast to cerebral OADs, patients with classical OADs have an increased risk of multiorgan dysfunction. The lack of the anaplerotic propionate pathway, synergistic inhibition of energy metabolism by toxic metabolites, and multiple oxidative phosphorylation (OXPHOS) deficiency may best explain the involvement of organs with a high energy demand. Intriguingly, late-onset organ dysfunction may manifest even under metabolically stable conditions. This might be explained by chronic mitochondrial DNA depletion, increased production of reactive oxygen species, and altered gene expression due to histone modification. In conclusion, pathomechanisms underlying the acute disease manifestation in OADs, with a particular focus on the brain, are partially understood. More work is required to predict the risk and to elucidate the mechanism of late-onset organ dysfunction, extracerebral disease manifestation, and tumorigenesis.
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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.