Abstract #1184551: Hypertriglyceridemic pancreatitis in a rare case of type A pyruvate carboxylase deficiency

Abstract

Pyruvate carboxylase (PC) deficiency is a spectrum of rare autosomal recessive disorders that can have significant metabolic consequences. Decreases of PC activity limits utilization of lactate and alanine for anaplerotic and synthetic fluxes. PC deficiency can lead to hypoglycemia, lactic acidosis, and hyperammonemia. Patients can develop central nervous system disease (via glial damage and demyelination leading to hydrocephalus), hepatotoxicity and insulinopenia. The latter can result in hypertriglyceridemia, though not a hallmark of PC deficiency.