Article
A Diagnostic Conundrum in Fumarase Deficiency: Expanding the Clinical and Genetic Spectrum in a Cohort of Pediatric and Adult Patients.
American journal of medical genetics. Part A - 1 Sept 2026
Ting Siew Li, Bassett John, Meyer Jonathan, Anderson Mark, Bowron Ann, Weber Astrid, Wu Teresa H Y, Mitchell Rowena, Robinson Rachel, Morris Andrew A M, Stepien Karolina M
Abstract excerpt
Fumarase deficiency (FMRD) is a rare autosomal recessive disorder caused by fumarate hydratase (FH) deficiency, with variable presentation from severe early-onset encephalopathy to mild cognitive impairment. Heterozygous carriers of some variants are predisposed to hereditary leiomyomatosis and renal cell carcinoma (HLRCC). We retrospectively reviewed clinical, biochemical, and molecular data from patients with...
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