Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency

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 r...

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Bibliographic Details
Published in:Molecular genetics and metabolism reports 2023-06, Vol.35, p.100968, Article 100968
Main Authors: Ogawa, Eri, Hishiki, Takako, Hayakawa, Noriyo, Suzuki, Hisato, Kosaki, Kenjiro, Suematsu, Makoto, Takenouchi, Toshiki
Format: Article
Language:English
Subjects:
Case Report
Ketogenic diet
Metabolome
Pyruvate dehydrogenase deficiency
Whole genome sequencing
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Summary: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.
ISSN:2214-4269
2214-4269
DOI:10.1016/j.ymgmr.2023.100968