Abstract 1108 Biochemical analysis of human FH mutations associated with Fumarate Hydratase Deficiency and Hereditary Leiomyomatosis and Renal Cell Carcinoma

The FH gene encodes for fumarate hydratase (also known as fumarase), a tumor suppressor and key enzyme in the Krebs cycle. Recessive mutations in FH cause the very rare metabolic disease called Fumarate Hydratase Deficiency (FHD). FHD is typically diagnosed in infancy, with patients exhibiting brain malformations, developmental delays, seizures, poor growth, and high childhood morbidity. In contrast, dominant mutations in FH are associated with Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC).