Pyruvate dehydrogenase deficiency due to a mutation of the E1 alpha subunit

J Inherit Metab Dis. 1991;14(3):301-4. doi: 10.1007/BF01811687.
No abstract available

Publication types

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

MeSH terms

  • Acidosis, Lactic / enzymology
  • Acidosis, Lactic / genetics
  • Amino Acid Sequence
  • Base Sequence
  • Blotting, Northern
  • Blotting, Western
  • DNA / genetics
  • Humans
  • Infant, Newborn
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Phosphorylation
  • Pyruvate Dehydrogenase Complex Deficiency Disease*
  • Serine / metabolism

Substances

  • Serine
  • DNA