The spectrum of inherited defects of lactate metabolism

Sigh. These are numerous, exquisitely rare, and one cannot help but wonder whether one is wasting one’s time reading about them, given that it is highly unlikely that such a situation will present itself. However, an excellent article is available to the public, and I present it as a reference here so as to be able to revisit this at some later stage.

Another paper presents a handy table of inherited conditions which result in lactic acidosis; I reproduce it below:

  • Defects of pyruvate metabolism
    • Pyruvate dehydrogenase deficiency
    • Pyruvate carboxylase deficiency
  • Defects of NADH oxidation
    • Mitochondrial electron transfer chain defects
  • Disorders of gluconeogenesis/glycogen storage disorders
    • Glucose 6-phosphatase deficiency (GSD I)
    • Fructose 1,6- bisphosphatase deficiency
    • Phosphoenolpyruvate carboxykinase deficiency
    • Glycogen debrancher deficiency (GSD III)
    • Glycogen synthase deficiency (GSD 0)
  • Fatty acid oxidation defects
  • Defects of biotin metabolism
    • Biotinidase deficiency
    • Holocarboxylase synthase deficiency
  • Defects of organic acid metabolism
    • Propionic acidemia
    • Methylmalonic acidemia
  • Others
    • Hereditary fructose intolerance


Christopher, Rita, and Bindu P. Sankaran. "An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist." Annals of Indian Academy of Neurology 11.2 (2008): 68.


DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. N Engl J Med 2003;348(26):2656–68.