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

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

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  • NSTL
  • Elsevier
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。

Pyruvate dehydrogenase deficiencyStress-induced hyperglycemiaKetogenic diet

Oh, Jiyoung、Koo, Chungmo、Kim, Kyung Won、Lee, Jin-Sung

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Yonsei Univ, Severance Childrens Hosp, Dept Pediat, Div Clin Genet,Coll Med, Seoul, South Korea

Yonsei Univ, Severance Childrens Hosp, Dept Pediat, Coll Med, Seoul, South Korea

Yonsei Univ, Severance Hosp, Dept Pediat, Coll Med, Seoul, South Korea

2021

10.1016/j.mehy.2020.110432

Medical hypotheses

Medical hypotheses

SCI
ISSN：0306-9877
年,卷(期)：2021.146
  • 39