Burden of Pyruvate dehydrogenase complex deficiency
1 evidence topic · 3 sources
Summary
The sponsor estimates that PDCD affects fewer than 1,000 individuals in the United States, with an incidence of approximately 1 in 40,000 live births. In a natural-history cohort of 59 participants, 23 (39%) had died; reported causes included severe lactic acidosis, respiratory failure, and infection. A separate neurodevelopmental study reported intellectual disability in 33 of 42 participants (79%) and significant adaptive-functioning impairment in 31 of 35 (89%). These estimates describe different populations and should not be treated as interchangeable measures of prognosis.