Biochemical insights into Primary hyperoxaluria type III

Abstract

Primary hyperoxaluria 3 (PH3) is a rare, autosomal-recessive inherited disorder characterized by increased oxalate production. It is caused by mutations in the HOGA1 gene encoding the enzyme 4-hydroxy-2-oxoglutarate aldolase (HOGA). Although these clinical mutations lead to the loss of enzymatic function it is still not clear what the metabolic fates of these mutant are within the cell. In this presentation I will describe our research showing the mechanisms by which the cell processes these aberrant HOGA forms as well as findings on another associated activity of HOGA that participates in the Kreb’s cycle.