Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.

ABSTRACT:

Background

Fumarate hydratase (FH) deficiency is a rare autosomal recessive disorder which results in a major defect in cellular metabolism. It presents in infancy with progressive encephalopathy, hypotonia, seizures and failure to thrive and is often fatal in childhood. It is caused by mutations in the FH gene (1q42.1) that result in deficiency of the citric acid cycle enzyme fumarate hydratase, resulting in accumulation of fumaric acid. Heterozygous germline mutations in the FH gene predispose to an aggressive autosomal dominant inherited early-onset kidney cancer syndrome: hereditary leiomyomatosis and renal cell cancer (HLRCC).

Case presentation

Cascade FH mutation screening enabled the early diagnosis of a renal tumour in an asymptomatic parent of a child with fumarate

SUBMITTER: Chan MMY 

PROVIDER: S-EPMC5530463 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature