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Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients

Parini, R; Furlan, F; Notarangedo, L; Spinazzola, A; Uziel, G; Strisciuglio, P; Concolino, D; ... Zeviani, M; + view all (2008) Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients. Journal of Hepatology , 50 (1) pp. 215-221. 10.1016/j.jhep.2008.08.019. Green open access

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Abstract

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 very severe and progressive liver disease: 1 died in the first year of life and the other underwent liver transplantation. The third patient, now 13 years of age, had a milder form of liver disease and developed progressive ataxia. Psychomotor involvement at onset of disease was mild or absent. No patient had severe hyperlactataemia. In vivo functional studies on two patients showed no hyperlactataemia even after intravenous and oral glucose loading, regular fasting hypoglycemia 3–4 h after meals and no response to glucagon. Liver function tests improved when patients received continuous iv glucose infusion or were regularly fed every 3 h. Conclusions These clinical and biochemical features allow us to differentiate patients with MPV17 mutations from other liver MDS and suggest that regular glucose intake at short intervals may be beneficial in slowing the progression of the disease.

Type: Article
Title: Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.jhep.2008.08.019
Publisher version: http://doi.org/10.1016/j.jhep.2008.08.019
Language: English
Additional information: This is an Open Access article made available under a Creative Commons Attribution Non-commercial Non-derivative 4.0 International license (CC BY-NC-ND 4.0). This license allows you to share, copy, distribute and transmit the work for personal and non-commercial use providing author and publisher attribution is clearly stated. Further details about CC BY licenses are available at http://creativecommons.org/ licenses/by/4.0. Access may be initially restricted by the publisher.
Keywords: MPV17, Mitochondrial diseases, Mitochondrial DNA depletion, Glucose metabolism
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
URI: https://discovery.ucl.ac.uk/id/eprint/1546407
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