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

Pediatrics

Baylor College of Medicine

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
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 - 2001

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title = "Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria",

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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pages = "136--138",

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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

Y1 - 2001

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 - https://www.scopus.com/pages/publications/0035027660

U2 - 10.1177/088307380101600214

DO - 10.1177/088307380101600214

M3 - Article

C2 - 11292221

AN - SCOPUS:0035027660

SN - 0883-0738

VL - 16

SP - 136

EP - 138

JO - Journal of Child Neurology

JF - Journal of Child Neurology

IS - 2

ER -

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

Abstract

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