Article
Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients.
Journal of hepatology - 1 Jan 2009
Parini Rossella, Furlan Francesca, Notarangelo Luigi, Spinazzola Antonella, Uziel Graziella, Strisciuglio Pietro, Concolino Daniela, Corbetta Carlo, Nebbia Gabriella, Menni Francesca, Rossi Giorgio, Maggioni Marco, Zeviani Massimo
Abstract excerpt
BACKGROUND/AIMS: To describe in detail the specific clinical and biological characteristics of three patients with MPV17 gene mutations, a rare hepatocerebral mitochondrial DNA depletion syndrome (MDS) and the positive effects of a novel dietetic treatment based on avoidance of fasting. METHODS: We describe the case histories of three members of the same family with MPV17 mutations. RESULTS: Two patients had a...
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