fumarate hydratase


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fu·ma·rate hy·dra·tase

(fū'mă-rāt hī'dră-tās), [MIM*136850]
An enzyme catalyzing the reversible interconversion of fumarate and water to malate, a reaction of importance in the tricarboxylic acid cycle. A deficiency will lead to mental retardation.
Synonym(s): fumarase

fumarate hydratase

An enzyme encoded by FH on chromosome 1q42.1, which catalyses the reversible hydration of fumarate to S-malate. The mitochondrial isoform is involved in the Krebs (citric acid) cycle; the cytosol isoform is involved in amino-acid-reductive (carboxylation cycle—CO2 fixation) metabolism.

Abnormal expression
FH mutations can cause fumarase deficiency and lead to progressive encephalopathy, see table.

Molecular defects
Fumarase deficiency in fetus
Polyhydramnios, brain defects.

Fumarase deficiency in neonate
Severe neurologic defects, poor feeding, failure to thrive, and hypotonia; attributed to defects in the mitochondrial and cytosol isoforms.

Fumarate hydratase germ-line mutations trigger an array of tumours: Uterine leiomyomatosis and renal-cell carcinoma (Reed’s syndrome).

fu·ma·rate hy·dra·tase

(fū'măr-āt hī'dră-tās)
An enzyme catalyzing the reversible interconversion of fumaric acid and water to malic acid, a reaction of importance in the tricarboxylic acid cycle. Deficiency leads to mental retardation.
References in periodicals archive ?
The genetic basis for HLRCC syndrome is germ-line inactivating mutation in the gene for the Krebs/tricarboxylic acid cycle enzyme, fumarate hydratase (FH), located in the enzyme that converts fumarate to malate.
HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability.
If both parents pass on a mutated copy of the fumarate hydratase gene, the results are disastrous.
Indeed, the researchers measured unusually low activity of fumarate hydratase in the fibroids in women with the mutated gene.