Article
Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients.
Brain : a journal of neurology - 1 Jun 1994
Matthews P M, Brown R M, Otero L J, Marchington D R, LeGris M, Howes R, Meadows L S, Shevell M, Scriver C R, Brown G K
Abstract excerpt
Fibroblast cultures from five patients with early onset severe encephalopathy and lactic acidosis were studied for evidence of pyruvate dehydrogenase (PDH) deficiency. Three males had significantly reduced activity (0.29-0.45 nmol/mg protein/min versus normal controls 0.7-1.1 nmol/mg protein/min)...
Topics
- Base Sequence
- Female
- Gene Expression Regulation, Enzymologic
- Genetic Linkage
- Humans
- Infant
- Infant, Newborn
- Male
- Molecular Sequence Data
- Mutation
- Pyruvate Dehydrogenase Complex
- Pyruvate Dehydrogenase Complex Deficiency Disease
- X Chromosome