If both parents pass on a mutated copy of the fumarate hydratase
gene, the results are disastrous.
Amino acid sequence similarities of the mitochondrial short chain [[DELTA].sup.3],[[DELTA].sup.2]-Enoyl-CoA isomerase and peroxisomal multifunctional [[DELTA].sup.3],[[DELTA].sup.2]-Enoyl-CoA isomerase, 2-Enoyl-CoA hydratase
, 3-Hydroxyacyl-CoA dehydrogenase enzyme in rat liver.
The 2 immunohistochemical biomarkers that show a high correlation with the diagnosis of HLRCC-associated RCC are fumarate hydratase
(FH) and S-(2-succino)-cysteine (2SC).
 Nonstandard abbreviations: MTP, mitochondrial trifunctional protein; HADHA and HADHB, hydroacyl-CoA dehydrogenase-[alpha] and -[beta] subunits, respectively; LCEH, long-chain enoyl-CoA hydratase
; LCHAD, long-chain 3-hydroxyacyl Co-A dehydrogenase; LCTH, long-chain ketoacyl-CoA thiolase; C160H, hydroxypalmitoylcarnitine; C16:1OH, hydroxyhexadecenoylcarnitine; C180H, hydroxyoctadecanoylcamitine; C18:1OH, hydroxyoctadecenoylcarnitine; MS/MS, tandem mass spectrometry; C14:1, hexadecenoylcarnitine; C16, palmitoylcarnitine; C16:1, hexadecenoylcarnitine; and C2, acetylcamitine.
fulgida, liver loci (aconitate hydratase
[sAH-A] and alcohol dehydrogenase [ADH-A]) were resolved on Tris-citrate pH 8.0 (Selander et al.
Hereditary leiomyomatosis-associated RCC is an autosomal dominant disorder that results from mutations in the fumarate hydratase
In addition, we found greater transcript levels in liver for all enzymes of butanoate metabolism (such as butyryl Coenzyme A synthetase 1, enoyl Coenzyme A hydratase
, hydroxyacyl-Coenzyme A dehydrogenase, and aldehyde dehydrogenase 1) as well as all five alcohol dehydrogenase (ADH) isoforms for metabolizing ethanol and retinol.
For enolase (phosphopyruvate hydratase
) and methionine adenosyltransferase (MAT), no decreases were noted at the mid and final time points, but at the early time point, >5-fold decreases were observed.
Hereditary leiomyomatosis and renal cell cancer syndrome is a autosomal dominant disorder caused by heterozygotic germline mutations in the fumarate hydratase
(FH) gene, and is characterized by predisposition to cutaneous and uterine leiomyomatosis.
Folger et al., "Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase
," Nature, vol.
3MGA type I is an autosomal recessive disorder caused by a deficiency of 3-methylglutaconylCoA hydratase
(3MGH; EC 22.214.171.124).
Proteins assayed were isocitrate dehydrogenase, 6-phosphogluconate dehydrogenase, adenylate kinase, tripeptidase, fumarate hydratase
, glucose-6-phosphate isomerase, and transferrin (table 2).