Article
Pyruvate dehydrogenase deficiency: molecular basis for intrafamilial heterogeneity.
Annals of neurology - 1 Jul 1994
Fujii T, Van Coster R N, Old S E, Medori R, Winter S, Gubits R M, Matthews P M, Brown R M, Brown G K, Dahl H H
Abstract excerpt
Two half-brothers and their mother had symptomatic pyruvate dehydrogenase complex deficiency. The infants had severe congenital lactic acidosis, seizures, and apneic spells and died at the ages 3 and 4 months. The mother was less symptomatic with mental retardation, truncal ataxia, and dysarthria. The residual pyruvate dehydrogenase activities in cultured skin fibroblasts from the 2 infants and their mother were...
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