Fumarate hydratase

Enzyme of the citric acid cycle which catalyses the addition of water to fumarate to L-malate or the associated back reaction. Mutations of the coding fumarate hydratase gene lead to the deficiency of the enzyme, to fumaric acid uria. Further heterozygous germline mutations of the fumarate hydratase gene may predispose to hereditary multiple cutaneous and uterine leiomyomas (MCUL) and renal cell carcinomas (HLRCC). Fumarate hydratase cannot be detected immunohistologically in these smooth muscle myomas.

1. Hantschke M et al (2016) Immunohistological techniques. In: L. Cerroni et al. histopathology of the skin. Springer Publishing House Berlin-Heidelberg p. 29.
2. Harrison WJ ET AL. (2016) Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings. On J Surg Pathol 40:599-607.