Fumarase deficiency

Synonym(s)
- Fumaric aciduria,
- Fumarate hydratase deficiency
Type

Disease
External link(s)
Gene
- FH / Fumarate Hydratase
  1q43
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Fumarate hydratase, mitochondrial
Pathway
- Pyruvate metabolism and Krebs cycle
Disease group(s)
- 5.2 Disorders of the Krebs cycle
Child entries
- Hereditary leiomyomatosis and renal cell cancer