Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The replacement of genetically deficient enzymes in patients with inherited metabolic disorders by infusion of purified enzymes or by organ transplantation has had very limited success, although good results with bone marrow transplantation have been obtained in some patients with mucopolysaccharidosis, Gaucher disease and inherited immunodeficiency diseases. Genetic engineering of the patient's lymphocytes may ultimately render these approaches redundant, at least for some of these diseases. Treatment of chronic pancreatic insufficiency and of disaccharidase deficiency with oral enzymes can be very effective; therapy can be monitored in the latter by measuring the breath hydrogen excretion and in the former by a range of tests of which stool chymotrypsin assay is the most convenient. Treatment of acute myocardial infarction by intracoronary perfusion of thrombolytic enzymes can improve both cardiac function and long-term survival if given early enough. Successful reperfusion can be identified by changes in the kinetics of serum enzyme release and clearance, especially for the isoenzymes and isoforms of creatine kinase. In cancer chemotherapy, L-asparaginase has long been a useful adjunct in the treatment of acute lymphoblastic leukemia, but recent experience suggests a role in acute nonlymphoblastic leukemia as well.
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PMID:Enzymes as agents for the treatment of disease. 157 79

The occurrence of chronic diarrhea in infants younger than three months suggests disaccharidase deficiency, cow's milk or soy protein intolerance, cystic fibrosis or an immunodeficiency state, while chronic diarrhea in children three to 18 years of age suggests celiac disease, late-onset primary lactose deficiency and inflammatory bowel disease. Gastrointestinal infection is the most common cause of chronic diarrhea in children of all ages. Diarrhea that develops after the introduction of cow's milk, cereals and fruits suggests an enzyme deficiency or protein intolerance. Watery, explosive stools suggest sugar intolerance, and foul-smelling, greasy, bulky stools suggest fat malabsorption. Marked weight loss suggests malabsorption, inflammatory bowel disease, hyperthyroidism or malignancy. The presence of neutrophils or red blood cells in the stool indicates bacterial gastroenteritis or inflammatory bowel disease, while the presence of eosinophils suggests protein intolerance or parasitic infestation. A toddler who is thriving and cheerful despite having diarrhea may have chronic nonspecific diarrhea of childhood.
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PMID:Evaluating the child with chronic diarrhea. 862 43