NADH:Q1 oxidoreductase deficiency without lactic acidosis in a patient with Leigh syndrome: implications for the diagnosis of inborn errors of the respiratory chain

J Inherit Metab Dis. 1991;14(3):297-300. doi: 10.1007/BF01811686.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acidosis, Lactic
  • Child, Preschool
  • Humans
  • Infant
  • Leigh Disease / enzymology*
  • Male
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / enzymology
  • Muscles / enzymology
  • Muscles / metabolism
  • NAD(P)H Dehydrogenase (Quinone) / deficiency*
  • Oxidation-Reduction

Substances

  • NAD(P)H Dehydrogenase (Quinone)