Abstract
Fumarate hydratase deficiency (FHD) caused by biallelic alterations of the FH (fumarate hydratase) gene is a rare disorder of the tricarboxylic acid cycle, classically characterized by encephalopathy, profound psychomotor retardation, seizures, a spectrum of brain abnormalities and early death in childhood. Less common milder phenotypes with moderate cognitive impairment and long-term survival have been reported. In addition, heterozygous mutations of the FH gene are responsible for hereditary leiomyomatosis and renal cell cancer (HLRCC). There is currently no recommended disease modifying treatment for FHD and only isolated reports of unsuccessful dietary modifications. Herein, we describe the safe and possibly disease modifying effect of a high fat, low carbohydrate diet in a 14-year-old female with severe FHD.
J. Christodoulou and S. Balasubramaniam contributed equally to this work.
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Communicated by: John H Walter, MD FRCPCH
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Key Synopsis
Long-term use of a high fat, low carbohydrate diet in severe fumarate hydratase deficiency is safe and may result in a milder outcome.
Details of the Contributions of Individual Authors
Bryony Ryder, John Christodoulou and Shanti Balasubramaniam were involved in the clinical management of the patient. Sue Thompson and Ashleigh Mitchell provided dietary advice in the management. Francesca Moore performed and interpreted metabolic laboratory investigations. John Christodoulou advised on the diagnostic work-up and initiating dietary management. Bryony Ryder and Shanti Balasubramaniam drafted the manuscript. All authors have read/critically revised the manuscript.
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Bryony Ryder.
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Bryony Ryder, Francesca Moore, Ashleigh Mitchell, Sue Thompson and Shanti Balasubramaniam declare that they have no conflict of interest. John Christodoulou is a communicating editor of the Journal of Inherited Metabolic Disease.
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Ryder, B., Moore, F., Mitchell, A., Thompson, S., Christodoulou, J., Balasubramaniam, S. (2017). Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 40. JIMD Reports, vol 40. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2017_65
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DOI: https://doi.org/10.1007/8904_2017_65
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