ArticleJournal of Korean medical science2006
A Korean female patient with thiamine-responsive pyruvate dehydrogenase complex deficiency due to a novel point mutation (Y161C)in the PDHA1 gene.
Article in Journal of Korean medical science, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
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Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 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
- Case Report: A novel hemizygous missenseFrontiers in pediatrics · 2024Article
- Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment.JIMD reports · 2015Article
- Defects of thiamine transport and metabolism.Journal of inherited metabolic disease · 2014Review
- Thiamine Responsive Pyruvate Dehydrogenase Complex Deficiency: A Potentially Treatable Cause of Leigh's Disease.Journal of pediatric neurosciencesArticle
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
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Abstract
Pyruvate dehydrogenase complex (PDHC) deficiency is mostly due to mutations in the X-linked E1alpha subunit gene (PDHA1). Some of the patients with PDHC deficiency showed clinical improvements with thiamine treatment. We report the results of biochemical and molecular analysis in a female patient with lactic acidemia. The PDHC activity was assayed at different concentrations of thiamine pyrophosphate (TPP). The PDHC activity showed null activity at low TPP concentration (1 x 10(-3) mM), but significantly increased at a high TPP concentration (1 mM). Sequencing analysis of PDHA1 gene of the patient revealed a substitution of cysteine for tyrosine at position 161 (Y161C). Thiamine treatment resulted in reduction of the patient's serum lactate concentration and dramatic clinical improvement. Biochemical, molecular, and clinical data suggest that this patient has a thiamine-responsive PDHC deficiency due to a novel mutation, Y161C. Therefore, to detect the thiamine responsiveness it is necessary to measure activities of PDHC not only at high but also at low concentration of TPP.
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