Article
Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.
BMC medical genetics - 26 Jul 2017
Chan Melanie M Y, Barnicoat Angela, Mumtaz Faiz, Aitchison Michael, Side Lucy, Brittain Helen, Bates Alan W H, Gale Daniel P
Abstract excerpt
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...
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