[Pyruvate dehydrogenase deficiency]

Tidsskr Nor Laegeforen. 2019 Oct 14;139(15). doi: 10.4045/tidsskr.18.0988. Print 2019 Oct 22.
[Article in Norwegian]

Abstract

Pyruvate dehydrogenase deficiency is a rare mitochondrial disease leading to energy deficiency in the cells. This particularly affects the central nervous system, resulting in a broad range of neurological symptoms.

Publication types

  • Review

MeSH terms

  • Diagnosis, Differential
  • Dichloroacetic Acid / administration & dosage
  • Dichloroacetic Acid / therapeutic use
  • Diet, Ketogenic
  • Humans
  • Pyruvate Dehydrogenase Complex / metabolism
  • Pyruvate Dehydrogenase Complex Deficiency Disease* / diagnosis
  • Pyruvate Dehydrogenase Complex Deficiency Disease* / enzymology
  • Pyruvate Dehydrogenase Complex Deficiency Disease* / etiology
  • Pyruvate Dehydrogenase Complex Deficiency Disease* / therapy
  • Thiamine / administration & dosage
  • Thiamine / therapeutic use

Substances

  • Pyruvate Dehydrogenase Complex
  • Dichloroacetic Acid
  • Thiamine