Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.2.1.108 (lactase)
 2,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Screening for cystic fibrosis (CF) in newborns is desirable, and efforts should continue in establishing a system of easily available, reliable, simple, and inexpensive tests. In addition to the Boehringer-Mannheim (BM) test for the detection of albumin, we propose the assay for lactase and beta-D-fucosidase in meconium. These latter two enzymes are present in the meconium of babies with CF and absent in meconium of most healthy babies. In a mass screening program for CF involving 20,182 specimens of meconium using only the BM strip, we found 46 positive results. Twenty-nine specimens came from infants with CF, six of whom had meconium ileus. Seventeen specimens yielded false-positive results by the BM test. Eleven of these would have been excluded by the addition of the lactase and beta-D-fucoside assay, thus reducing the false-positive test results by nearly 61%. In a comparative study of the three methods, the lactase and beta-D-fucosidase yielded 1.2% false-positives when examined independently. Performance of these two assays may allow greater specificity in diagnosis when used in addition to the BM test.
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PMID:Studies in meconium. An approach to screening tests to detect cystic fibrosis. 10 86