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.
| Original language | English |
|---|---|
| Pages (from-to) | 215-221 |
| Number of pages | 7 |
| Journal | Journal of Hepatology |
| Volume | 50 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Jan 2009 |
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Keywords
- Glucose metabolism
- Mitochondrial diseases
- Mitochondrial DNA depletion
- MPV17
ASJC Scopus subject areas
- Hepatology
Cite this
Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients. / 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.
In: Journal of Hepatology, Vol. 50, No. 1, 01.2009, p. 215-221.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients
AU - Parini, Rossella
AU - Furlan, Francesca
AU - Notarangelo, Luigi
AU - Spinazzola, Antonella
AU - Uziel, Graziella
AU - Strisciuglio, Pietro
AU - Concolino, Daniela
AU - Corbetta, Carlo
AU - Nebbia, Gabriella
AU - Menni, Francesca
AU - Rossi, Giorgio
AU - Maggioni, Marco
AU - Zeviani, Massimo
PY - 2009/1
Y1 - 2009/1
N2 - 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.
AB - 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.
KW - Glucose metabolism
KW - Mitochondrial diseases
KW - Mitochondrial DNA depletion
KW - MPV17
UR - http://www.scopus.com/inward/record.url?scp=57049149030&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=57049149030&partnerID=8YFLogxK
U2 - 10.1016/j.jhep.2008.08.019
DO - 10.1016/j.jhep.2008.08.019
M3 - Article
C2 - 19012992
AN - SCOPUS:57049149030
VL - 50
SP - 215
EP - 221
JO - Journal of Hepatology
JF - Journal of Hepatology
SN - 0168-8278
IS - 1
ER -