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

• Main Authors: Melanie M. Y. Chan (Author), Angela Barnicoat (Author), Faiz Mumtaz (Author), Michael Aitchison (Author), Lucy Side (Author), Helen Brittain (Author), Alan W. H. Bates (Author), Daniel P. Gale (Author)
• Format: Book
• Published: BMC, 2017-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 mut...