Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet
| Autor: | F. Moore, Sue Thompson, B. Ryder, A. Mitchell, Shanti Balasubramaniam, John Christodoulou |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Fumarase deficiency business.industry Encephalopathy Disease medicine.disease Phenotype High fat low carbohydrate Article Citric acid cycle 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Endocrinology 030220 oncology & carcinogenesis Internal medicine Fumarase medicine business Gene |
| Zdroj: | JIMD Reports ISBN: 9783662578797 |
| ISSN: | 2192-8304 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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