Journal
MOLECULAR GENETICS AND METABOLISM
Volume 97, Issue 4, Pages 292-296Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2009.04.014
Keywords
MPV17 mutations; Mitochondrial DNA depletion syndrome; Liver dysfunction; Viral infection; Mitochondrial respiratory chain complex; Succinate; Ubiquinone; Ketone milk; Lipid-rich diet; Treatment
Funding
- Japan Society for the Promotion of Science [16591052, 19591220]
- Promotion and Mutual Aid Corporation for Private Schools of Japan
- Saitama Medical University Internal [06-015]
- Grants-in-Aid for Scientific Research [19591220, 16591052] Funding Source: KAKEN
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Background/aims: To describe the clinical and biological findings of two Japanese siblings with novel MPV17 gene mutations (c.451insC/c.509C > T) manifesting hepatic mitochondrial DNA depletion syndrome. Methods: We observed these brothers and sought to determine the efficacy of treatment targeting respiratory chain complex II for the younger brother. Results: A 3-month-old boy had presented with profound liver dysfunction, failure to thrive, and watery diarrhea. Although he was then placed on a carbohydrate-rich diet, his liver function thereafter fluctuated greatly in association with viral infections, and rapidly deteriorated to liver failure. He underwent liver transplantation at 17 months of age but died at 22 months of age. The younger brother, aged 47 months at the time of this writing, presented with liver dysfunction from 8 months of age. His transaminase levels also fluctuated considerably fluctuations in association with viral infections. At 31 months of age, treatment with succinate and ubiquinone was initiated together with a lipid-rich diet using ketone milk. Thereafter, his transaminase levels normalized and never fluctuated, and the liver histology improved. Conclusions: These cases suggested that the clinical courses of patients with MPV17 mutations are greatly influenced by viral infections and that dietary and pharmaceutical treatments targeting the mitochondrial respiratory chain complex II may be beneficial in the clinical management of MPV17 mutant patients. (C) 2009 Elsevier Inc. All rights reserved.
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