ArticleJournal of inherited metabolic disease2009
Peripheral neuropathy in a patient with D-2-hydroxyglutaric aciduria.
Article in Journal of inherited metabolic disease, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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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.
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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
5 citing papers in PubMed, 12 citations in OpenAlex.
- D2HGDH Deficiency Regulates Seizures through GSH/Prdx6/ROS-Mediated Excitatory Synaptic Activity.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in theMolecular genetics and metabolism reports · 2019Article
- D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.Human mutation · 2019Article
- Progress in understanding 2-hydroxyglutaric acidurias.Journal of inherited metabolic disease · 2012Review
- Child with D-2-Hydroxyglutaric Aciduria Type II: A Rare Neurometabolic Disorder.Annals of Indian Academy of NeurologyArticle
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
D-2-hydroxyglutaric aciduria (D-2-HGA; OMIM 600721) is a rare autosomal recessive neurometabolic disorder with a wide clinical spectrum. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy with hypotonia, delayed cerebral visual development, cardiomyopathy and facial dysmorphic features. The mild phenotype has a more variable clinical expression with hypotonia and developmental delay. We present peripheral neuropathy as an additional clinical and electrophysiological feature in a 16-year-old boy with a homozygous missense mutation in exon 3 of the D-2-hydroxyglutarate dehydrogenase gene (D2HGDH) at position c.458T>C. This mutation results in replacement of a methionine residue, which was highly conserved during evolution, by threonine (p.Met153Thr).
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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.