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Results 1 - 7 of 7 for fumarate deficiency
  1. Fumarase deficiency 
    ... called hereditary leiomyomatosis and renal cell cancer (HLRCC). Fumarate hydratase deficiency Fumaric aciduria Genetic Testing Registry: Fumarase deficiency Fumaric ...
    https://medlineplus.gov/genetics/condition/fumarase-deficiency - Genetics
  2. FH gene 
    ... uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. Hum Mol Genet. 2003 Jun 1;12(11): ... O, Sacchettini J, Oppermann U. Structural basis of fumarate hydratase deficiency. J Inherit Metab Dis. 2011 Jun;34(3): ...
    https://medlineplus.gov/genetics/gene/fh - Genetics
  3. Hereditary leiomyomatosis and renal cell cancer 
    ... buildup of fumarate. Researchers believe that the excess fumarate may interfere with the regulation of oxygen levels in the cell. Chronic oxygen deficiency (hypoxia) in cells with two mutated copies of ...
    https://medlineplus.gov/...tary-leiomyomatosis-and-renal-cell-cancer - Genetics
  4. SDHB gene 
    ... a compound called succinate to another compound called fumarate. Negatively charged particles called electrons are released during ... the SDH enzyme, succinate is not converted to fumarate, and succinate builds up in the cell. The ...
    https://medlineplus.gov/genetics/gene/sdhb - Genetics
  5. SDHA gene 
    ... a compound called succinate to another compound called fumarate. Negatively charged particles called electrons are released during ... the SDH enzyme, succinate is not converted to fumarate, and succinate builds up in the cell. The ...
    https://medlineplus.gov/genetics/gene/sdha - Genetics
  6. SDHC gene 
    ... a compound called succinate to another compound called fumarate. Negatively charged particles called electrons are released during ... the SDH enzyme, succinate is not converted to fumarate, and succinate builds up in cells. The excess ...
    https://medlineplus.gov/genetics/gene/sdhc - Genetics
  7. SDHD gene 
    ... a compound called succinate to another compound called fumarate. Negatively charged particles called electrons are released during ... the SDH enzyme, succinate is not converted to fumarate, and succinate builds up in the cell. The ...
    https://medlineplus.gov/genetics/gene/sdhd - Genetics