Results

RDF/XMLNTriplesTurtleShow queryShare ▶
SubjectPredicateObject
http://purl.uniprot.org/citations/19520594http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/19520594http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/19520594http://www.w3.org/2000/01/rdf-schema#comment"

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."xsd:string
http://purl.uniprot.org/citations/19520594http://purl.org/dc/terms/identifier"doi:10.1016/j.ymgme.2009.04.014"xsd:string
http://purl.uniprot.org/citations/19520594http://purl.org/dc/terms/identifier"doi:10.1016/j.ymgme.2009.04.014"xsd:string
http://purl.uniprot.org/citations/19520594http://purl.uniprot.org/core/author"Iwasa H."xsd:string
http://purl.uniprot.org/citations/19520594http://purl.uniprot.org/core/author"Iwasa H."xsd:string
http://purl.uniprot.org/citations/19520594http://purl.uniprot.org/core/author"Murayama K."xsd:string
http://purl.uniprot.org/citations/19520594http://purl.uniprot.org/core/author"Murayama K."xsd:string
http://purl.uniprot.org/citations/19520594http://purl.uniprot.org/core/author"Nishiyama M."xsd:string
http://purl.uniprot.org/citations/19520594http://purl.uniprot.org/core/author"Nishiyama M."xsd:string
http://purl.uniprot.org/citations/19520594http://purl.uniprot.org/core/author"Okazaki Y."xsd:string
http://purl.uniprot.org/citations/19520594http://purl.uniprot.org/core/author"Okazaki Y."xsd:string
http://purl.uniprot.org/citations/19520594http://purl.uniprot.org/core/author"Shiraki K."xsd:string
http://purl.uniprot.org/citations/19520594http://purl.uniprot.org/core/author"Shiraki K."xsd:string
http://purl.uniprot.org/citations/19520594http://purl.uniprot.org/core/author"Yamamoto M."xsd:string
http://purl.uniprot.org/citations/19520594http://purl.uniprot.org/core/author"Yamamoto M."xsd:string
http://purl.uniprot.org/citations/19520594http://purl.uniprot.org/core/author"Sugimoto S."xsd:string
http://purl.uniprot.org/citations/19520594http://purl.uniprot.org/core/author"Sugimoto S."xsd:string
http://purl.uniprot.org/citations/19520594http://purl.uniprot.org/core/author"Katayama T."xsd:string
http://purl.uniprot.org/citations/19520594http://purl.uniprot.org/core/author"Katayama T."xsd:string
http://purl.uniprot.org/citations/19520594http://purl.uniprot.org/core/author"Kitamoto K."xsd:string
http://purl.uniprot.org/citations/19520594http://purl.uniprot.org/core/author"Kitamoto K."xsd:string
http://purl.uniprot.org/citations/19520594http://purl.uniprot.org/core/author"Fujimoto Y."xsd:string
http://purl.uniprot.org/citations/19520594http://purl.uniprot.org/core/author"Fujimoto Y."xsd:string
▶