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

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

doi:10.1177/088307380101600214

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

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

Human Genetics

Research output: Contribution to journal › Article › peer-review

17 Scopus citations

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 (US)
Pages (from-to)	136-138
Number of pages	3
Journal	Journal of child neurology
Volume	16
Issue number	2
DOIs	https://doi.org/10.1177/088307380101600214
State	Published - Jan 1 2001

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Clinical Neurology

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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.",

author = "F. Scaglia and {Reid Sutton}, V. and Bodamer, {O. A.F.} and H. Vogel and Shapira, {S. K.} and Naviaux, {R. K.} and Vladutiu, {G. D.}",

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AU - Reid Sutton, V.

AU - Bodamer, O. A.F.

AU - Vogel, H.

AU - Shapira, S. K.

AU - Naviaux, R. K.

AU - Vladutiu, G. D.

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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.

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