title: Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria.
abstract: 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.
authors.affiliation: Service de Pédiatrie, Centre Hospitalier de Fontainebleau, France.
authors.forename: P
authors.initials: P
authors.lastname: Saunier
authors.forename: D
authors.initials: D
authors.lastname: Chretien
authors.forename: C
authors.initials: C
authors.lastname: Wood
authors.forename: A
authors.initials: A
authors.lastname: Rötig
authors.forename: J P
authors.initials: JP
authors.lastname: Bonnefont
authors.forename: J M
authors.initials: JM
authors.lastname: Saudubray
authors.forename: D
authors.initials: D
authors.lastname: Rabier
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: P
authors.initials: P
authors.lastname: Rustin
mesh_terms: D015139:Blotting, Southern; D002478:Cells, Cultured / Q000201:enzymology; D030401:Cytochrome-c Oxidase Deficiency; D017809:Fatal Outcome; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006463:Hemolytic-Uremic Syndrome / Q000150:complications; D006801:Humans; D007223:Infant; D008214:Lymphocytes / Q000201:enzymology; D009212:Myoglobinuria / Q000201:enzymology* / Q000209:etiology*; D010084:Oxidation-Reduction; D010101:Oxygen Consumption / Q000502:physiology; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012008:Recurrence; D013384:Succinate Cytochrome c Oxidoreductase / Q000378:metabolism
chemical_list: D005227:Fatty Acids; D013384:Succinate Cytochrome c Oxidoreductase