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

Enteropeptidase converts trypsinogen into active trypsin, which not only hydrolyses some peptide bonds of food proteins but also activates a number of pancreatic zymogens. For this reason enteropeptidase is a key enzyme in the digestion of dietary proteins and its absence may result in gross protein malabsorption.
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PMID:The role of enteropeptidase in the digestion of protein and its development in human fetal small intestine. 39 33

Enterokinase initiates digestion of protein by conversion of trypsinogen into trypsin. The interactions between enterokinase and trysin were investigated in 6 patients with intractable diarrhea of infancy and 34 children with celiac disease. The six infants between 2 and 3 months with intractable diarrhea of infancy had reduced mucosal enterokinase activity (9.5 +/- 4.8muM per gram of protein per minute) and reduced intraluminal trypsin activity (2.9 +/- 0.7muM per gram of protein per minute) as compared with healthy controls (109 +/- 34.2muM per gram of protein per minute and 14.3 +/- 5.8muM per gram of protein per minute) respectively. The activities of all enzymes returned toward normal following treatment with intravenous alimentation. The mucosal morphology of all pretreatment biopsies in all cases showed Grade III atrophy which improved. These findings suggest that enterokinase deficiency and reduced intraluminal trypsin activity in intractable diarrhea of infancy may be one of the contributing factors to protein malabsorption and consequent malnutrition. Thirty-four children with celiac disease were between the age of 9 months and 13 years. The 11 newly diagnosed patients with celiac disease demonstrated Grade III to IV atrophy of the mucosa. The 23 patients with treated celiac disease on a gluten-free diet showed a normal to Grade II atrophy. In both treated and untreated celiac disease the enterokinase activities and the intraluminal trypsin activity were within normal limits. The enterokinase activity in celiac disease is near normal in contrast to the marked reduction noted in intractable diarrhea of infancy even though the intestinal mucosa shows marked morphological alteration and the disaccharidase activities are greatly reduced in celiac disease. After a prolonged alimentary fast of up to 26 days on intravenous alimentation, two patients with intractable diarrhea of infancy showed improvement in the activities of enterokinase and trypsin. These findings demonstrate that enterokinase and trypsin activities in the gut were present and improved in the absence of oral feeding.
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PMID:The interrelationship of enterokinase and trypsin activities in intractable diarrhea of infancy, celiac disease, and intravenous alimentation. 80 41

Two trypsin assay methods for the estimation of this enzyme in duodenal fluid from children have been compared. Assay results for a fluorometric method based on the use of N-carbobenzoxy-diglycyl-L-arginyl-2-naphthylamide hydrochloride (GANA) as the trypsin substrate were found to correlate well (r = 0.91, P less than 0.001) with those obtained with a much less sensitive titrimetric assay which used benzoylarginine ethylester hydrochloride (BAEE) as substrate. The higher sensitivity of the fluorometric assay has allowed accurate determination of trypsin activity in 10 microliter aliquots of duodenal fluid. This low volume requirement makes the assay suitable for studies on infants of all ages and conserves duodenal fluid for use in other investigations often warranted during the assessment of childhood malabsorption. The fluorometric assay has also been used to monitor the separation of enteropeptidase from trypsin(ogen) by chromatography on Sephacryl S-200 in samples of duodenal fluid from two children. Different proteolytic pathway deficiencies were confirmed in these children.
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PMID:Fluorometric microassay of trypsin and enteropeptidase in children--comparison with a titrimetic assay. 639 83

We report on a 40-yr-old man with both primary enteropeptidase deficiency and celiac disease. He suffered from severe intestinal malabsorption and growth failure as a child. Enteropeptidase deficiency was found and pancreatic enzyme replacement therapy resulted in a growth spurt. Enteropeptidase levels in his intestinal mucosa and intraluminal fluid remained very low throughout childhood and early adult life. Celiac disease was confirmed by characteristic abnormalities in tests of intestinal function and in mucosal biopsies, which recovered when he instituted a gluten-free diet. He remains clinically intolerant to gluten as an adult. Enteropeptidase levels have remained abnormally low whether or not his intestinal mucosa has been normal in response to gluten restriction. Enteropeptidase levels have previously been shown to be normal in untreated celiac patients. The relationship between the two disorders remains unclear.
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PMID:Celiac disease in a patient with a congenital deficiency of intestinal enteropeptidase. 1146 62

With the rapid increase in knowledge on the genetic origin of diseases within the gastrointestinal tract the number of congenital diseases, which already manifest during childhood have drastically increased. Due to the large application of molecular genetics the number is steadily increasing. To make the access to these rare diseases fast and efficient the data base of the National Library of Medicine (Online Mendelian Inheritance of Man - OMIN) is a very helpful online tool, with which all these disease entities can be found easily (http://www.ncbi.nlm.nih.gov/omim). Detailed tables are given to find most of the congenitally inherited disease, which affect the gastrointestinal tract. A variety of congenital diarrheas with disturbances of digestion, hydrolysis, absorption and secretion is described in detail: lactose intolerance, sucrose intolerance, glucose-galactose malabsorption, fructose malabsorption, trehalase and enterokinase deficiency, congenital chloride and sodium diarrhea, congenital hypomagnesaemia, primary bile acid malabsorption, acrodermatitis enteropathica and Menke's syndrome. Also described in detail are diseases with structural anomalies of the intestine like microvillous inclusion disease, congenital tufting enteropathy and IPEX syndrome. The diagnosis in the disturbances of carbohydrate hydrolysis or absorption can be established by H2-breath tests after appropriate sugar challenge. Treatment consists of elimination of the responsible sugar from the diet. The diagnosis of the congenital secretory diarrheas is established by investigation of electrolytes in blood and stool. Substitution of high doses of the responsible mineral can improve the clinical outcome. In acrodermatitis enteropathica low serum zinc level together with the typical skin lesions guide to the diagnosis. High doses of oral zinc aspartate can cure the symptoms of the disease. The diagnosis of structural congenital lesions of the intestine can be established by histology and/or electron microscopy and molecular identification of the responsible mutations. The treatment of these diseases is difficult and therefore the prognosis remains poor. Immunosupressive therapy, total parenteral nutrition and even intestinal or bone marrow transplantation are the only choice for treatment.
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PMID:Congenital diseases of the gastrointestinal tract. 2494 Aug 57