Leigh syndrome due to pyruvate dehydrogenase E1 alpha deficiency (point mutation R263G) in a Spanish boy

J Inherit Metab Dis. 1996;19(6):795-6. doi: 10.1007/BF01799177.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Humans
  • Infant
  • Leigh Disease / etiology*
  • Male
  • Point Mutation*
  • Pyruvate Dehydrogenase (Lipoamide)
  • Pyruvate Dehydrogenase Complex / genetics*
  • Pyruvate Dehydrogenase Complex Deficiency Disease / complications*

Substances

  • Pyruvate Dehydrogenase Complex
  • Pyruvate Dehydrogenase (Lipoamide)