ArticleJournal of inherited metabolic disease1996
L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death.
Article in Journal of inherited metabolic disease, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 70 citations in OpenAlex.
- Cerebral neoplasms in L-2 hydroxyglutaric aciduria: 3 new cases and meta-analysis of literature data.AJNR. American journal of neuroradiology · 2012Pooled it
- Novel neuropathological findings in a long-term survivor of D-2-hydroxyglutaric aciduria type 1.Virchows Archiv : an international journal of pathology · 2024Article
- A universal metabolite repair enzyme removes a strong inhibitor of the TCA cycle.Nature communications · 2024Article
- Loss of function variants in L2HGDH gene causing L-2-hydroxyglutaric aciduria.Acta neurologica Belgica · 2023Article
- L-2-Hydroxyglutaric Acid Administration to Neonatal Rats Elicits Marked Neurochemical Alterations and Long-Term Neurobehavioral Disabilities Mediated by Oxidative Stress.Neurotoxicity research · 2023Article
- A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family.Metabolic brain disease · 2022Article
- Oxidative stress among L-2-hydroxyglutaric aciduria disease patients: evaluation of dynamic thiol/disulfide homeostasis.Metabolic brain disease · 2019Article
- Clinicoradiological Spectrum of L-2-Hydroxy Glutaric Aciduria: Typical and Atypical Findings in an Indian Cohort.Journal of clinical imaging science · 2019Article
- Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.BMC medical genetics · 2018Article
- Rotenone Stereospecifically Increases (S)-2-Hydroxyglutarate in SH-SY5Y Neuronal Cells.Chemical research in toxicology · 2015Article
- Article
- Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.Journal of human genetics · 2014Article
- Metabolic causes of epileptic encephalopathy.Epilepsy research and treatment · 2013Article
- Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria.European journal of pediatrics · 2009Review
- L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair.Journal of inherited metabolic disease · 2009Review
- Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review.Journal of neuro-oncology · 2009Review
- L-2-hydroxyglutaric aciduria, a defect of metabolite repair.Journal of inherited metabolic disease · 2007Article
- A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria.Proceedings of the National Academy of Sciences of the United States of America · 2004Article
- Effects of L-2-hydroxyglutaric acid on various parameters of the glutamatergic system in cerebral cortex of rats.Metabolic brain disease · 2003Article
- L-2-hydroxyglutaric aciduria and lactic acidosis.Journal of inherited metabolic disease · 1998Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
L-2-Hydroxyglutaric aciduria is a rare organic aciduria associated with neurological and particularly cerebellar abnormalities. These abnormalities developed in childhood or later in all previously described patients. We report a more severe form of L-2-hydroxyglutaric aciduria in which an infant presented shortly after birth with hypotonia, apnoea, and seizures, leading to death in the perinatal period. Computerized tomography scans of the brain at 1 day and 2 weeks of age showed abnormal low density of the cerebellum. Examination of the brain showed brainstem and cerebellar atrophy with neuronal loss and gliosis in an olivopontocerebellar distribution. The diagnosis of L-2-hydroxyglutaric aciduria should be considered in any non-dysmorphic newborn with progressive neurological abnormalities and CNS imaging suggesting low density and size of the cerebellum. The diagnostic consideration is based initially on clinical findings. Conventional urine organic acid analysis reveals the presence of 2-hydroxyglutaric aciduria. Specific diagnosis requires methodologies which distinguish the L- from the D-isomer.
Indexed as
Identifiers
What OpenQuestion holds
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.