ArticleJIMD reports2013
Pyruvate dehydrogenase-e1α deficiency presenting as recurrent demyelination: an unusual presentation and a novel mutation.
Article in JIMD reports, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a 'Treatabolome'.Journal of neuromuscular diseases · 2021Pooled it
- Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.Journal of inherited metabolic disease · 2026Review
- A challenging interplay between basic research, technologies and medical education to provide therapies based on disease mechanisms.Frontiers in medicine · 2024Article
- Neurodegenerative Disorder Risk in Krabbe Disease Carriers.International journal of molecular sciences · 2022Article
- 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
- Quantitative Proteomic and Network Analysis of Differentially Expressed Proteins in PBMC of Friedreich's Ataxia (FRDA) Patients.Frontiers in neuroscience · 2019Article
- Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes.Journal of inherited metabolic disease · 2017Article
- The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.Journal of inherited metabolic disease · 2015Review
- Mitochondrial Dynamics during Development.Newborn (Clarksville, Md.)Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The nucleus-encoded mitochondrial pyruvate dehydrogenase enzyme complex plays key roles in cellular energy metabolism and acid-base equilibrium. Pyruvate dehydrogenase complex deficiency is due to loss-of-function mutation in one of the five component enzymes, most commonly E1α-subunit. The common clinical presentation ranges from fatal infantile lactic acidosis in newborns to chronic neurological dysfunction. We describe here an unusual presentation of E1α-subunit deficiency presenting as recurrent demyelination, Guillain-Barré syndrome-like demyelinating polyneuropathy at the onset, and ophthalmoplegia in a young infant. The clinical phenotype of the mutation in the patient was unique as compared to the previous reported cases of pyruvate dehydrogenase deficiency. The mother was found to be a mosaic carrier of the mutation. This phenotypic variability of pyruvate dehydrogenase complex deficiency and early suspicion of its unusual neurological manifestations is highlighted. Thiamine and ketogenic diet can be helpful.
Identifiers
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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.