Document Detail

Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria.
MedLine Citation:
PMID:  7580240     Owner:  NLM     Status:  MEDLINE    
Markedly reduced cytochrome c oxidase (COX) activity was found in cultured skin fibroblasts of an infant with recurrent episodes of acute myoglobinuria, hypertonia, muscle stiffness and elevated plasma levels of sarcoplasmic enzymes (creatine kinase 96950 U/l, normal below 150) since the age of 3 weeks (COX activity: 36 nmol/min/mg protein; normal 65-440; COX/succinate cytochrome c reductase ratio: 1.4, normal 3.0 +/- 0.4). The expression of the disease in cultured fibroblasts allowed us to carry out a prenatal diagnosis during the next pregnancy. Hitherto, mitochondrial respiratory chain deficiency has not been established as a cause of recurrent myoglobinuria in childhood. Since most cases of myoglobinurias remain poorly understood, we suggest giving consideration to respiratory chain deficiency in elucidating the origin of unexplained recurrent myoglobinuria in childhood, especially when seemingly unrelated symptoms are present.
P Saunier; D Chretien; C Wood; A Rötig; J P Bonnefont; J M Saudubray; D Rabier; A Munnich; P Rustin
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neuromuscular disorders : NMD     Volume:  5     ISSN:  0960-8966     ISO Abbreviation:  Neuromuscul. Disord.     Publication Date:  1995 Jul 
Date Detail:
Created Date:  1995-11-27     Completed Date:  1995-11-27     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9111470     Medline TA:  Neuromuscul Disord     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  285-9     Citation Subset:  IM    
Service de Pédiatrie, Centre Hospitalier de Fontainebleau, France.
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MeSH Terms
Blotting, Southern
Cells, Cultured / enzymology
Cytochrome-c Oxidase Deficiency*
Fatal Outcome
Fatty Acids / metabolism
Fibroblasts / enzymology
Hemolytic-Uremic Syndrome / complications
Lymphocytes / enzymology
Myoglobinuria / enzymology*,  etiology*
Oxygen Consumption / physiology
Prenatal Diagnosis
Succinate Cytochrome c Oxidoreductase / metabolism
Reg. No./Substance:
0/Fatty Acids; EC 1.-/Succinate Cytochrome c Oxidoreductase

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