ReviewJournal of inherited metabolic disease2008
Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism.
Review in Journal of inherited metabolic disease, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 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.
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Who cites it
23 citing papers in PubMed, 45 citations in OpenAlex.
- Improved nutritional management of phenylketonuria by using a diet containing glycomacropeptide compared with amino acids.The American journal of clinical nutrition · 2009Trial
- Modeling Glutaric Aciduria Type I in human neuroblastoma cells recapitulates neuronal damage that can be rescued by gene replacement.Gene therapy · 2024Article
- Identification and validation of biomarkers based on cellular senescence in mild cognitive impairment.Frontiers in aging neuroscience · 2023Article
- Novel imaging technologies for genetic diagnoses in the inborn errors of metabolism.Journal of translational genetics and genomics · 2020Article
- Late-onset cobalamin C deficiency Chinese sibling patients with neuropsychiatric presentations.Metabolic brain disease · 2018Article
- Toxic Synergism Between Quinolinic Acid and Glutaric Acid in Neuronal Cells Is Mediated by Oxidative Stress: Insights to a New Toxic Model.Molecular neurobiology · 2018Article
- Favourable outcome in a child with symptomatic diagnosis of Glutaric aciduria type 1 despite vertical HIV infection and minor head trauma.Metabolic brain disease · 2018Article
- Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy.International journal of molecular sciences · 2018Article
- Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria.Oxidative medicine and cellular longevity · 2018Review
- Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.Journal of inherited metabolic disease · 2017Article
- Oxidative Stress, Disrupted Energy Metabolism, and Altered Signaling Pathways in Glutaryl-CoA Dehydrogenase Knockout Mice: Potential Implications of Quinolinic Acid Toxicity in the Neuropathology of Glutaric Acidemia Type I.Molecular neurobiology · 2016Article
- Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation.JIMD reports · 2015Article
- Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.Orphanet journal of rare diseases · 2014Review
- Metabolic causes of epileptic encephalopathy.Epilepsy research and treatment · 2013Article
- Food products made with glycomacropeptide, a low-phenylalanine whey protein, provide a new alternative to amino Acid-based medical foods for nutrition management of phenylketonuria.Journal of the Academy of Nutrition and Dietetics · 2012Review
- Wernicke-like encephalopathy during classic maple syrup urine disease decompensation.Journal of inherited metabolic disease · 2012Article
- New frontiers in neuroimaging applications to inborn errors of metabolism.Molecular genetics and metabolism · 2011Review
- Cobalamin C defect presenting as severe neonatal hyperammonemia.European journal of pediatrics · 2011Article
- Cobalamin C defect: natural history, pathophysiology, and treatment.Journal of inherited metabolic disease · 2011Review
- Neonatal astrocyte damage is sufficient to trigger progressive striatal degeneration in a rat model of glutaric acidemia-I.PloS one · 2011Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited disorders of amino and organic acid metabolism have a high cumulative frequency, and despite heterogeneous aetiology and varying clinical presentation, the manifestation of neurological disease is common. It has been demonstrated for some of these diseases that accumulating pathological metabolites are directly involved in the manifestation of neurological disease. Various pathomechanisms have been suggested in different in vitro and in vivo models including an impairment of brain energy metabolism, an imbalance of excitatory and inhibitory neurotransmission, altered transport across the blood-brain barrier and between glial cells and neurons, impairment of myelination and disturbed neuronal efflux of metabolic water. This review summarizes recent knowledge on pathomechanisms involved in phenylketonuria, glutaric aciduria type I, succinic semialdehyde dehydrogenase deficiency and aspartoacylase deficiency with examples, highlighting general as well as disease-specific concepts and their putative impact on treatment.
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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.