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01-03-2007 | Original Paper

Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations

Authors: Maaike C. de Vries, Richard J. Rodenburg, Eva Morava, Edwin P. M. van Kaauwen, Henk ter Laak, Reinier A. Mullaart, Irina N. Snoeck, Peter M. van Hasselt, Peter Harding, Lambert P. W. van den Heuvel, Jan A. M. Smeitink

Published in: European Journal of Pediatrics | Issue 3/2007

Abstract

Failure to thrive, feeding difficulties, variable forms of infantile epilepsy or psychomotor developmental delay and hypotonia were the most frequent clinical disease presentations in eight children with combined oxidative phosphorylation enzyme complex deficiencies carrying mutations in the polymerase gamma (POLG1) gene. Five out of eight patients developed severe liver dysfunction during the course of the disease. Three of these patients fulfilled the disease criteria for Alpers syndrome. Most children showed deficiencies of respiratory chain enzyme complexes I and III, in combination with complex II, complex IV and/or PDHc in muscle, whereas in fibroblasts normal enzyme activities were measured. All children carried homozygous or compound heterozygous mutations in the POLG1 gene, including two novel mutations in association with mtDNA depletion. Conclusion We suggest performing POLG1 mutation analysis in children with combined oxidative phosphorylation deficiencies in muscle, even if the clinical picture is not Alpers syndrome.

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Title: Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations
Authors: Maaike C. de Vries
Richard J. Rodenburg
Eva Morava
Edwin P. M. van Kaauwen
Henk ter Laak
Reinier A. Mullaart
Irina N. Snoeck
Peter M. van Hasselt
Peter Harding
Lambert P. W. van den Heuvel
Jan A. M. Smeitink
Publication date: 01-03-2007
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 3/2007
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-006-0234-9

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Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations

Abstract

Keynote webinar | Spotlight on medication adherence

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Abstract

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