ReviewNature reviews. Neurology2019
Neurological manifestations of organic acidurias.
Review in Nature reviews. Neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 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
42 citing papers in PubMed, 69 citations in OpenAlex.
- L-carnitine modulates molecular responses associated with inflammation, endoplasmic reticulum stress, and neurotrophic signaling in cerebral cortex of neonatal GcdhMetabolic brain disease · 2026Article
- L-Carnitine Prevents Lipopolysaccharide-Induced Inflammatory Response, Microglia Activation and Neuronal Damage in Cerebral Cortex, as Well as Neuromotor Development Delay in Neonatal Glutaryl-CoA Dehydrogenase Deficient (GcdhJournal of inherited metabolic disease · 2026Article
- Protective in vitro effects of antioxidants against DNA damage induced by metabolites accumulated in propionic and methylmalonic acidemias.Naunyn-Schmiedeberg's archives of pharmacology · 2026Article
- Integrative proteogenomic analyses identify plasma proteins that impact the risk of ischemic stroke.Communications medicine · 2026Article
- Immune Dysregulation in Branched Chain Organic Acidemias.Journal of inherited metabolic disease · 2026Review
- Clinical, magnetic resonance imaging, and neuropathological features of suspected inborn methylmalonic aciduria in a domestic shorthair kitten.Journal of veterinary internal medicine · 2026Article
- Prolonged In Vitro Exposure to Methylmalonic Acid Induces Inflammation, Glutamate Metabolism Disruption, and Alters Functional Gene Expression in C6 Astroglial Cells.Neurotoxicity research · 2026Article
- Ethylmalonic and Methylsuccinic Acids Disrupt Bioenergetics and Induce Mitochondrial Permeability Transition Through Thiol Redox Modulation in Rat Striatum: Potential Mechanisms Involved in Ethylmalonic Encephalopathy.Neurochemical research · 2026Article
- l-2-Hydroxyglutarate impairs neuronal differentiation through epigenetic activation of MYC expression.The Journal of clinical investigation · 2026Article
- Aminoadipate-semialdehyde synthase, a potential target for substrate reduction therapy in glutaric aciduria type 1.Scientific reports · 2026Article
- 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
- RNA-Based Therapies for Inherited Metabolic Disorders.Journal of inherited metabolic disease · 2026Review
- Nutritional Management in Severe Methylmalonic and Propionic Acidemias: How Much Medical Food Is Too Much?Journal of inherited metabolic disease · 2026Article
- The role of L-DOPA in neurological and neurodegenerative complications: a review.Molecular and cellular biochemistry · 2025Review
- Pediatric Genetic Dystonias: Current Diagnostic Approaches and Treatment Options.Life (Basel, Switzerland) · 2025Review
- Disruption of Mitochondrial Quality Control in Inherited Metabolic Disorders.Molecular neurobiology · 2025Review
- Mitochondrial dysfunction drives a neuronal exhaustion phenotype in methylmalonic aciduria.Communications biology · 2025Article
- Novel CRISPR-Cas9 iPSC knockouts for PCCA and PCCB genes: advancing propionic acidemia research.Human cell · 2025Article
- Newborn Screening for Isovaleric Acidemia: Treatment With Pivalate-Generating Antibiotics Contributed to False C5-Carnitine Positivity in a Chinese Population.Molecular genetics & genomic medicine · 2024Article
- 3-Hydroxy-3-Methylglutaric Acid Disrupts Brain Bioenergetics, Redox Homeostasis, and Mitochondrial Dynamics and Affects Neurodevelopment in Neonatal Wistar Rats.Biomedicines · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Organic acidurias (OADs) are inherited neurometabolic diseases largely caused by deficiencies in enzymes involved in amino acid degradation, which result in accumulation of organic acids in the brain and other tissues. Disease presentation usually occurs in infancy, although late-onset variants can emerge during childhood or adulthood. Patients predominantly manifest with acute encephalopathy with life-threatening systemic manifestations (classical OADs) or progressive neurological symptoms (cerebral OADs), leading to permanent cerebral abnormalities. Some OADs are treatable, and early diagnosis and treatment implementation have substantially decreased the mortality and overall morbidity from OADs. However, long-term irreversible cerebral and systemic complications are frequent because the therapeutic options are currently limited. The pathophysiology of brain dysfunction is still unclear in most OADs, and further investigation is needed to enable the development of novel therapeutic strategies. This Review focuses on current knowledge of the OADs, including epidemiology, short-term and long-term neurological and systemic features, diagnosis and prognosis, and recent advances in therapy and pathophysiology. The goal of the article is to alert neurologists and related health professionals to the existence and importance of these neurometabolic diseases and to stimulate research into the damaging factors that contribute to their neurodegenerative sequelae.
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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.