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

References

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.