Article
Clinical and biochemical heterogeneity associated with fumarase deficiency.
Human mutation - 1 Sept 2011
Ottolenghi Chris, Hubert Laurence, Allanore Yannick, Brassier Anais, Altuzarra Cécilia, Mellot-Draznieks Caroline, Bekri Soumeya, Goldenberg Alice, Veyrieres Severine, Boddaert Nathalie, Barbier Valérie, Valayannopoulos Vassili, Slama Abdelhamid, Chrétien Dominique, Ricquier Daniel, Marret Stéphane, Frebourg Thierry, Rabier Daniel, Munnich Arnold, de Keyzer Yves, Toulhoat Hervé, de Lonlay Pascale
Abstract excerpt
Fumarase deficiency (FD), caused by biallelic alteration of the Fumarase Hydratase gene (FH), and a rare metabolic disorder that affects the Krebs cycle, causes severe neurological impairment and fumaric aciduria. Less than 30 unrelated cases are known to date. In addition, heterozygous mutations of the FH gene are responsible for hereditary leiomyomatosis and renal cell cancer (HLRCC). We report three additional...
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