Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 42-year-old woman had a 10-year history of external ophthalmoplegia, malabsorption resulting in chronic malnutrition, muscle atrophy and polyneuropathy. Computer tomography revealed hypodensity of her cerebral white matter. A metabolic disturbance consisted of lactic acidosis after moderate glucose loads with increased excretion of hydroxybutyric and fumaric acids. Post-mortem studies revealed gastrointestinal scleroderma as the morphological manifestation of her malabsorption syndrome, ocular and skeletal myopathy with ragged red fibers, peripheral neuropathy, vascular abnormalities of meningeal and peripheral nerve vessels. Biochemical examination of the liver and muscle tissues revealed a partial defect of cytochrome-c-oxidase (complex IV of the respiratory chain). This mitochondrial multisystem disorder may represent a separate entity to be classified between the spectrum of myoencephalopathies and oculo-gastrointestinal muscular dystrophy.
 ...
PMID:Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder. 282 22

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.
 ...
PMID:Reduced copper enzyme activities in blood cells of children with cystic fibrosis. 766 Nov 26