Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:1.9.3.1 (cytochrome oxidase)
 8,822 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cystic fibrosis patients are at risk for nutrient deficiencies from malabsorption related to exocrine pancreatic insufficiency. This research examined the copper homeostasis of children with cystic fibrosis. Our objective was to measure cytochrome oxidase and copper-zinc superoxide dismutase activities in mononuclear cells, neutrophils, and erythrocytes of adolescents with cystic fibrosis, as well as plasma copper and ceruloplasmin. Thirteen adolescents with pancreatic insufficiency caused by cystic fibrosis were compared with 10 age- and sex-matched control subjects. Serum copper concentrations and ceruloplasmin measurements were not significantly different between the two groups. Cytochrome oxidase activity was significantly lower in the mononuclear cells and copper-zinc superoxide dismutase activity was significantly lower in the neutrophils and erythrocytes of the cystic fibrosis group. Other measures of trace element status such as hemoglobin concentration, serum ferritin, serum zinc, glutathione peroxidase activity, and manganese superoxide dismutase activity were not different between the two groups. Reductions in the activity of two copper-dependent enzymes suggest abnormal copper homeostasis in this population.
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PMID:Reduced copper enzyme activities in blood cells of children with cystic fibrosis. 766 Nov 26

Cytochrome-c oxidase (COX) is the most common respiratory chain complex involved in liver failure, either as a single enzyme deficiency or as part of multiple enzyme deficiencies. We describe an infant who presented with fulminant lactic acidosis in the neonatal period. The lactic acidosis resolved spontaneously but liver and pancreatic insufficiency ensued. Isolated cytochrome-c oxidase deficiency was found in liver but not in muscle and fibroblasts. mtDNA rearrangements or depletion were ruled out. By the age of one year, liver and pancreatic functions have normalized completely and neurodevelopment is normal.
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PMID:Reversible fulminant lactic acidosis and liver failure in an infant with hepatic cytochrome-c oxidase deficiency. 1240 86