Article
Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit.
Human genetics - 1 Mar 1992
De Meirleir L, Lissens W, Vamos E, Liebaers I
Abstract excerpt
We report the molecular characterization of a case of a functional PDH-E1 (E1 subunit of pyruvate dehydrogenase) deficiency, a cause of severe congenital lactic acidosis. Residual PDH-E1 activity was reduced to 10% of normal values, although the subunit appeared to be quantitatively and qualitatively normal at the protein level as determined by Western blotting. The sequence of PDH-E1 alpha mRNA and the...
Topics
- Acidosis, Lactic
- Amino Acid Sequence
- Base Sequence
- Cloning, Molecular
- DNA
- Humans
- Infant, Newborn
- Male
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Pyruvate Dehydrogenase (Lipoamide)