Document Detail


Mitochondrial respiratory chain deficiency revealed by hypothermia.
MedLine Citation:
PMID:  11414641     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We observed a 17-month-old girl with profound and initially isolated episodes of hypothermia. Thereafter, she developed growth delay, repetitive corneal and bone lesions. Persistent hyperlactataemia in plasma and in CSF prompted us to investigate respiratory chain enzymes. A deficit in respiratory chain complexes III and IV was demonstrated in isolated skeletal muscle mitochondria, circulating lymphocytes and fibroblasts by spectrophotometric and polarographic studies. Moreover, UCP3 mRNA expression in muscle was decreased.
Authors:
F Cholley; P Edery; D Ricquier; S Peudenier; A Slama; M Tardieu
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Neuropediatrics     Volume:  32     ISSN:  0174-304X     ISO Abbreviation:  Neuropediatrics     Publication Date:  2001 Apr 
Date Detail:
Created Date:  2001-06-20     Completed Date:  2001-12-04     Revised Date:  2008-01-16    
Medline Journal Info:
Nlm Unique ID:  8101187     Medline TA:  Neuropediatrics     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  104-6     Citation Subset:  IM    
Affiliation:
Service de Neurologie, Département de Pédiatrie, Hĵpital Bicêtre, Rennes, France.
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MeSH Terms
Descriptor/Qualifier:
Biopsy
Carrier Proteins / genetics*
Child, Preschool
Cytochrome-c Oxidase Deficiency*
Electron Transport Complex III / deficiency*
Female
Fractures, Spontaneous / diagnosis,  enzymology,  genetics
Humans
Hypothermia / enzymology,  etiology*,  genetics
Infant
Infant, Newborn
Ion Channels
Mitochondrial Myopathies / diagnosis*,  enzymology,  genetics
Mitochondrial Proteins
Muscle, Skeletal / pathology
RNA, Messenger / genetics*
Retinitis Pigmentosa / diagnosis,  enzymology,  genetics
Chemical
Reg. No./Substance:
0/Carrier Proteins; 0/Ion Channels; 0/Mitochondrial Proteins; 0/RNA, Messenger; 0/mitochondrial uncoupling protein 3; EC 1.10.2.2/Electron Transport Complex III

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