Congenital lactase deficiency is a rare disorder, though its exact incidence is unknown. This condition is most common in Finland, where it affects an estimated 1 in 60,000 newborns.
There is no such record in Bangladesh. Recently we diagnosed a case of lactase deficiency of a newborn at the age of five days of age. Before that the baby suffered from severe pain abdomen with lose motion with much flatus. The baby was given simithicone orally but symptoms not abated. We advised stool for reducing substance but it was negative. Still we suspect it to be congenital lactase deficiency and started lactase enzyme after each breast feeding. The baby well responded and symptoms abated.
But why the reducing test was negative- it is interesting matter.
In most time when a physicians advise this test the mother submits the solid portion of the stool because watery portion usually is absorbed in the napkin or diaper. The physician have little time to mention that the liquid portion of the stool should be submitted to the laboratory. In this way primarily a congenital lactase deficiency may remain undiagnosed for long time.
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