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

Authors
Scaglia, F Sutton, VR Bodamer, OAF Vogel, H Shapira, SK Naviaux, RK Vladutiu, GD
Citation
F. Scaglia et al., Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria, J CHILD NEU, 16(2), 2001, pp. 136-138
Citations number
18
Categorie Soggetti
Pediatrics,"Neurosciences & Behavoir
Journal title
JOURNAL OF CHILD NEUROLOGY
ISSN journal
08830738 → ACNP
Volume
16
Issue
2
Year of publication
2001
Pages
136 - 138
Database
ISI
SICI code
0883-0738(200102)16:2<136:MDDAWP>2.0.ZU;2-A
Abstract
We report a patient with mitochondrial DNA depletion, partial complex II an d IV deficiencies, and 3-methylglutaconic aciduria. Complex II deficiency h as not been previously observed in mitochondrial DNA depletion syndromes. T he observation of 3-methylglutaconic and 3-methylglutaric acidurias may be a useful indicator of a defect in respiratory chain function caused by mito chondrial DNA depletion.