Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Fumarate hydratase

Mutations of the FH gene cause fumarase deficiency and hereditary leiomyomatosis and hereditary renal cancer often concurs.

Pathology

Fumarat hydratase is a key enzyme in Krebs cycle, which is respinsible for metabolism of tricarboxylic acids. The conversion of fumarate to malate is catalyzed.<br>Heterozygous mutations cause skin leiomyomatosis and these patients are of hight risk for renal-cell cancers.<br>Homozygous mutations are associated with early cerebral demage and growth failure.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Hereditary leiomyomatosis and renal cell cancer
COL4A6
FH

References:

1.

Alam NA et al. (2005) Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer.

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2.

Pollard PJ et al. (2003) The TCA cycle and tumorigenesis: the examples of fumarate hydratase and succinate dehydrogenase.

external link
3.

Kiuru M et al. (2004) Hereditary leiomyomatosis and renal cell cancer (HLRCC).

external link
4.

Alam NA et al. (2005) Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed tumor syndrome.

external link
5.

None (2005) Multiple cutaneous and uterine leiomyomatosis (Reed's syndrome).

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6.

NCBI article

NCBI 2271 external link
7.

OMIM.ORG article

Omim 136850 external link
8.

Orphanet article

Orphanet ID 121823 external link
9.

Wikipedia article

Wikipedia EN (Fumarase) external link
Update: Aug. 14, 2020
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