Potential role of stress-induced gluconeogenesis in disease aggravation and mortality in pyruvate dehydrogenase deficiency: A case-based hypothesis

Med Hypotheses. 2021 Jan:146:110432. doi: 10.1016/j.mehy.2020.110432. Epub 2020 Dec 1.


Pyruvate dehydrogenase (PDH) deficiency is an inherited metabolic disorder caused by a defect in any subunit of the pyruvate dehydrogenase complex (PDHC), which has an essential role in glucose metabolism. The causes of disease progression in PDH deficiency are not fully understood yet. Based on repeated observations of a patient with PDH deficiency at our center, we hypothesized that stress-induced gluconeogenesis contributes to rapid exacerbation of the disease. This link has not been established previously.

Keywords: Ketogenic diet; Pyruvate dehydrogenase deficiency; Stress-induced hyperglycemia.

MeSH terms

  • Gluconeogenesis
  • Humans
  • Pyruvate Dehydrogenase Complex / metabolism
  • Pyruvate Dehydrogenase Complex Deficiency Disease*


  • Pyruvate Dehydrogenase Complex