Patients with pyruvate dehydrogenase E1-beta deficiency (PDHBD) present with typical clinical, biochemical and neuroradiological features: encephalopathy, hypotonia, respiratory difficulties, seizures, and lactic acidosis. Agenesis of the corpus callosum is often present. Patients with a severe clinical course die in infancy (summary by Quintana et al., 2009).
For a general phenotypic description and a discussion of genetic heterogeneity of pyruvate dehydrogenase deficiency, see 312170. [from
OMIM]