Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency

Eri Ogawa, Takako Hishiki, Noriyo Hayakawa, Hisato Suzuki, Kenjiro Kosaki, Makoto Suematsu, Toshiki Takenouchi

Research output: Contribution to journalArticlepeer-review


The pyruvate dehydrogenase complex serves as the main connection between cytosolic glycolysis and the tricarboxylic acid cycle within mitochondria. An infant with pyruvate dehydrogenase complex deficiency was treated with vitamin B1 supplementation and a ketogenic diet. These dietary modifications resolved the renal tubular reabsorption, central apnea, and transfusion-dependent anemia. A concurrent metabolome analysis demonstrated the resolution of the amino aciduria and an increased total amount of substrates in the tricarboxylic acid cycle, reflecting the improved mitochondrial energetics. Glutamate was first detected in the cerebrospinal fluid, accompanied by a clinical improvement, after the ketogenic ratio was increased to 3:1; thus, glutamate levels in cerebrospinal fluid may represent a biomarker for neuronal recovery. Metabolomic analyses of body fluids are useful for monitoring therapeutic effects in infants with inborn errors of carbohydrate metabolism.

Original languageEnglish
Article number100968
JournalMolecular Genetics and Metabolism Reports
Publication statusPublished - 2023 Jun


  • Ketogenic diet
  • Metabolome
  • Pyruvate dehydrogenase deficiency
  • Whole genome sequencing

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Endocrinology


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