ArticlePediatric neurology2011
MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency.
Article in Pediatric neurology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 34 citations in OpenAlex.
- Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.Journal of inherited metabolic disease · 2026Review
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- Pyruvate Dehydrogenase Complex Deficiency: A Review of Treatments and Case Series.International journal of molecular sciences · 2026Review
- Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.Brain : a journal of neurology · 2024Article
- Characteristic Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency.medRxiv : the preprint server for health sciences · 2024Article
- Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.Molecular genetics and metabolism reports · 2022Article
- Identification of solute carrier family genes related to the prognosis and tumor-infiltrating immune cells of pancreatic ductal adenocarcinoma.Annals of translational medicine · 2022Article
- Mitochondrial dynamics and its impact on human health and diseases: inside the DRP1 blackbox.Journal of molecular medicine (Berlin, Germany) · 2022Review
- Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome.Clinical case reports · 2021Article
- Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother.European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society · 2021Article
- Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.Human molecular genetics · 2016Article
- The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.Journal of inherited metabolic disease · 2015Review
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Pyruvate dehydrogenase complex is a key intramitochondrial multienzyme complex required for the conversion of pyruvate to acetyl-CoA. Most patients with pyruvate dehydrogenase deficiency have a defect in the E1 alpha subunit, associated with mutations in the PDHA1 gene. In this report, we submit detailed magnetic resonance images in 4 affected female patients with PDHA1 mutations who had with severe cortical atrophy, dilated ventricles, and an incomplete corpus callosum. In one of these patients, the magnetic resonance imaging pattern prompted molecular diagnostic testing when enzymatic testing was normal. We underscore that this constellation of features, which may be misdiagnosed as periventricular leukomalacia, illustrates a pattern highly suggestive of a deficiency of pyruvate dehydrogenase E1 alpha in female patients and should trigger appropriate diagnostic investigations.
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