Document Detail

Fatal heart failure associated with CoQ(10) and multiple OXPHOS deficiency in a child with propionic acidemia.
MedLine Citation:
PMID:  21329767     Owner:  NLM     Status:  Publisher    
The role of a secondary respiratory chain deficiency as an additional mechanism to intoxication, leading to development of long-term energy-dependent complications, has been recently suggested in patients with propionic acidemia (PA). We show for the first time a coenzyme Q(10) (CoQ(10)) functional defect accompanied by a multiple organ oxidative phosphorylation (OXPHOS) deficiency in a child who succumbed to acute heart failure in the absence of metabolic stress. Quinone-dependent activities in the liver (complex I+III, complex II+III) were reduced, suggesting a decrease in electron transfer related to the quinone pool. The restoration of complex II+III activity after addition of exogenous ubiquinone to the assay system suggests CoQ(10) deficiency. Nevertheless, we disposed of insufficient material to perform direct measurement of CoQ(10) content in the patient's liver. Death occurred before biochemical diagnosis of OXPHOS deficiency could be made. However, this case highlights the usefulness of rapidly identifying CoQ(10) defects secondary to PA since this OXPHOS disorder has a good treatment response which could improve heart complications or prevent their appearance. Nevertheless, further studies will be necessary to determine whether CoQ(10) treatment can be useful in PA complications linked to CoQ(10) deficiency.
Konstantina Fragaki; Aline Cano; Jean-François Benoist; Odile Rigal; Annabelle Chaussenot; Cécile Rouzier; Sylvie Bannwarth; Céline Caruba; Brigitte Chabrol; Véronique Paquis-Flucklinger
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-2-14
Journal Detail:
Title:  Mitochondrion     Volume:  -     ISSN:  1872-8278     ISO Abbreviation:  -     Publication Date:  2011 Feb 
Date Detail:
Created Date:  2011-2-18     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100968751     Medline TA:  Mitochondrion     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2010. Published by Elsevier B.V.
Department of Medical Genetics, Archet 2 Hospital, Nice Teaching Hospital, France; LBPG, CNRS UMR 6267/Inserm U998/UNS, School of Medicine, Nice, France.
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