Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: Lack of correlation with genotype

► 59 PDC-deficient subjects had 47 mutations of PDHA1 (53 cases), PDHB, and DLAT. ► No pathogenic mutations were found in 33 (36%) of PDC deficient subjects. ► Mortality was greatest in first 4 years and in males (56%) vs. females (25%). ► Female survivors had lower cognitive function and more brain malformations. ► Male survivors had higher frequency of Leigh syndrome.