Fumarase deficiency (also known as fumaric aciduria) is a rare, life-limiting,autosomal recessive disorder associated with encephalopathy, hypotonia and seizures.Heterozygous germline mutations of FH are associated withhereditary leiomyomatosis and renal cell cancer (HLRCC). The gene discussed is FH; the disease is hereditary leiomyomatosis and renal cell cancer.