Ornithine transcarbamylase and disaccharidase activities in damaged intestinal mucosa of children--diagnosis of hereditary ornithine transcarbamylase deficiency in mucosa.
Ornithine transcarbamylase (OTC) and disaccharidase activities were measured in the intestinal mucosa from 182 children. Sixty-nine had normal mucosa, whereas the others had different degrees of mucosal damage. Brush border disaccharidases are significantly decreased in all degrees of villous atrophy. In contrast, OTC is not affected in moderate atrophy and only slightly decreased in severe atrophy. Consequently, the OTC-to-lactase ratio increases with the degree of atrophy and permits discrimination between normal and damaged mucosa. The assay of OTC activity in intestinal mucosa for the diagnosis of hereditary deficiency in male hemizygote patients generally provides nonambiguously low results, whereas in heterozygote females the amount of residual activity is in the range of the results found in damaged mucosa.
D002648:Child; D004186:Disaccharidases / Q000378:metabolism*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007413:Intestinal Mucosa / Q000201:enzymology* / Q000473:pathology; D008286:Malabsorption Syndromes / Q000201:enzymology / Q000473:pathology; D008297:Male; D009954:Ornithine Carbamoyltransferase / Q000235:genetics / Q000378:metabolism; D020163:Ornithine Carbamoyltransferase Deficiency Disease
D009954:Ornithine Carbamoyltransferase; D004186:Disaccharidases