Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet.
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ABSTRACT:
SUBMITTER: Ryder B
PROVIDER: S-EPMC6122040 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
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Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet.
Ryder B B Moore F F Mitchell A A Thompson S S Christodoulou J J Balasubramaniam S S
JIMD reports 20171021
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 l ...[more]
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