Journal of Child Neurology 2001-02-01

Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria.

F Scaglia, V R Sutton, O A Bodamer, H Vogel, S K Shapira, R K Naviaux, G D Vladutiu

文献索引：J. Child Neurol. 16(2) , 136-8, (2001)

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摘要

We report a patient with mitochondrial DNA depletion, partial complex II and IV deficiencies, and 3-methylglutaconic aciduria. Complex II deficiency has not been previously observed in mitochondrial DNA depletion syndromes. The observation of 3-methylglutaconic and 3-methylglutaric acidurias may be a useful indicator of a defect in respiratory chain function caused by mitochondrial DNA depletion.