Notice: Users may be experiencing issues with displaying some pages on stanfordhealthcare.org. We are working closely with our technical teams to resolve the issue as quickly as possible. Thank you for your patience.
 

Learn about the flu shot, COVID-19 vaccine, and our masking policy »

Stanford Health Care

Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria 49th Annual Meeting of the American-Society-of-Human-Genetics Scaglia, F., Sutton, V. R., Bodamer, O. A., Vogel, H., Shapira, S. K., Naviaux, R. K., Vladutiu, G. D. SAGE PUBLICATIONS INC. 2001: 136–38

Abstract

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.

View details for Web of Science ID 000171025300014

View details for PubMedID 11292221