ReviewJournal of bioenergetics and biomembranes2011
Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies.
Review in Journal of bioenergetics and biomembranes, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
What it found
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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.
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Who cites it
40 citing papers in PubMed, 80 citations in OpenAlex.
- Liver Cancer in Methylmalonic and Propionic Acidemias: A Rare Complication? A Clinico-Pathological Study of 24 Livers.Journal of inherited metabolic disease · 2026Article
- Immune Dysregulation in Branched Chain Organic Acidemias.Journal of inherited metabolic disease · 2026Review
- Mitochondrial dysfunction in methylmalonic acidemia: A pilot study using Seahorse technology in peripheral blood.Molecular genetics and metabolism reports · 2025Article
- Metabolic toxicity and neurological dysfunction in methylmalonic acidemia: from mechanisms to therapeutics.Molecular medicine (Cambridge, Mass.) · 2025Review
- Metabolic flux analysis in hiPSC-CMs reveals insights into cardiac dysfunction in propionic acidemia.Cellular and molecular life sciences : CMLS · 2025Article
- Idiopathic Pulmonary Fibrosis Caused by Damaged Mitochondria and Imbalanced Protein Homeostasis in Alveolar Epithelial Type II Cell.Advanced biology · 2025Review
- Cerebral White Matter Alterations Associated With Oligodendrocyte Vulnerability in Organic Acidurias: Insights in Glutaric Aciduria Type I.Neurotoxicity research · 2024Review
- A feedback loop engaging propionate catabolism intermediates controls mitochondrial morphology.Nature cell biology · 2022Article
- Mitochondrial Dysfunction and Redox Homeostasis Impairment as Pathomechanisms of Brain Damage in Ethylmalonic Encephalopathy: Insights from Animal and Human Studies.Cellular and molecular neurobiology · 2022Review
- Mitochondrial shape alteration by metabolites.Nature cell biology · 2022Article
- Ilex paraguariensis Attenuates Changes in Mortality, Behavioral and Biochemical Parameters Associated to Methyl Malonate or Malonate Exposure in Drosophila melanogaster.Neurochemical research · 2019Article
- Long-term efficacy and safety of mRNA therapy in two murine models of methylmalonic acidemia.EBioMedicine · 2019Article
- Neurological manifestations of organic acidurias.Nature reviews. Neurology · 2019Review
- Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias.Journal of inherited metabolic disease · 2018Article
- Autozygosity mapping of methylmalonic acidemia associated genes by short tandem repeat markers facilitates the identification of five novel mutations in an Iranian patient cohort.Metabolic brain disease · 2018Article
- Experimental Evidence that In Vivo Intracerebral Administration of L-2-Hydroxyglutaric Acid to Neonatal Rats Provokes Disruption of Redox Status and Histopathological Abnormalities in the Brain.Neurotoxicity research · 2018Article
- Impact of pregnancy on inborn errors of metabolism.Reviews in endocrine & metabolic disorders · 2018Review
- Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria.Oxidative medicine and cellular longevity · 2018Review
- "Classical organic acidurias": diagnosis and pathogenesis.Clinical and experimental medicine · 2017Review
- Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia.Scientific reports · 2017Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Organic acidurias or organic acidemias constitute a group of inherited disorders caused by deficient activity of specific enzymes of amino acids, carbohydrates or lipids catabolism, leading to large accumulation and excretion of one or more carboxylic (organic) acids. Affected patients usually present neurologic symptoms and abnormalities, sometimes accompanied by cardiac and skeletal muscle alterations, whose pathogenesis is poorly known. However, in recent years growing evidence has emerged indicating that mitochondrial dysfunction is directly or indirectly involved in the pathology of various organic acidemias. Mitochondrial impairment in some of these diseases are generally due to mutations in nuclear genes of the tricarboxylic acid cycle or oxidative phosphorylation, while in others it seems to result from toxic influences of the endogenous organic acids to the mitochondrion. In this minireview, we will briefly summarize the present knowledge obtained from human and animal studies showing that disruption of mitochondrial homeostasis may represent a relevant pathomechanism of tissue damage in selective organic acidemias. The discussion will focus on mitochondrial alterations found in patients affected by organic acidemias and by the deleterious effects of the accumulating organic acids on mitochondrial pathways that are crucial for ATP formation and transfer. The elucidation of the mechanisms of toxicity of these acidic compounds offers new perspectives for potential novel adjuvant therapeutic strategies in selected disorders of this group.
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