EP457: Fetal presentation of pyruvate dehydrogenase complex deficiency diagnosed by prenatal exome sequencing

Abstract

Pyruvate dehydrogenase complex deficiency is a rare X-linked inborn error of metabolism that typically presents in infancy or early childhood, rather than prenatally. The mean age of diagnosis is ∼45 months (median age of diagnosis is ∼20 months of age). Affected individuals have persistent lactic acidosis, which causes a variety of neurological manifestations. Progressive neurological deterioration is often accompanied by encephalopathy, seizures, and death. We present a prenatal case of pyruvate dehydrogenase complex deficiency diagnosed by prenatal exome sequencing, which presented with multiple nonspecific congenital anomalies.