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

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.

journal_name

Eur J Pediatr

journal_title

European journal of pediatrics

authors

de Vries MC,Rodenburg RJ,Morava E,van Kaauwen EP,ter Laak H,Mullaart RA,Snoeck IN,van Hasselt PM,Harding P,van den Heuvel LP,Smeitink JA

doi

10.1007/s00431-006-0234-9

subject

Has Abstract

pub_date

2007-03-01 00:00:00

pages

229-34

issue

3

eissn

0340-6199

issn

1432-1076

journal_volume

166

pub_type

杂志文章

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