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-methyl-glutaconic and 3-methylglutaric acidurias may be a useful indicator of a defect in respiratory chain function caused by mitochondrial DNA depletion.
| Original language | English |
|---|---|
| Pages (from-to) | 136-138 |
| Number of pages | 3 |
| Journal | Journal of Child Neurology |
| Volume | 16 |
| Issue number | 2 |
| State | Published - May 12 2001 |
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ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
Cite this
Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria. / Scaglia, F.; Reid Sutton, V.; Bodamer, O. A F; Vogel, H.; Shapira, S. K.; Naviaux, R. K.; Vladutiu, G. D.
In: Journal of Child Neurology, Vol. 16, No. 2, 12.05.2001, p. 136-138.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria
AU - Scaglia, F.
AU - Reid Sutton, V.
AU - Bodamer, O. A F
AU - Vogel, H.
AU - Shapira, S. K.
AU - Naviaux, R. K.
AU - Vladutiu, G. D.
PY - 2001/5/12
Y1 - 2001/5/12
N2 - 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-methyl-glutaconic and 3-methylglutaric acidurias may be a useful indicator of a defect in respiratory chain function caused by mitochondrial DNA depletion.
AB - 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-methyl-glutaconic and 3-methylglutaric acidurias may be a useful indicator of a defect in respiratory chain function caused by mitochondrial DNA depletion.
UR - http://www.scopus.com/inward/record.url?scp=0035027660&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0035027660&partnerID=8YFLogxK
M3 - Article
C2 - 11292221
AN - SCOPUS:0035027660
VL - 16
SP - 136
EP - 138
JO - Journal of Child Neurology
JF - Journal of Child Neurology
SN - 0883-0738
IS - 2
ER -