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Question |
2w old NB present with lethargy,weak cry.Previous 2 deaths at day 2 &3 after birth.Both delivered vajinally without complication &had hyperpnea. on ex. full term NB lethargic,weak primitive reflexes ,no acidosis. Exa. of all systems are normal except for 3f below costal margin firm hepatomegaly. Random bd sugar&Ca are normal. Blood is sent for c&s.GUE is normal but positive for reducing substance. My questions; 1.Does this history go with galactosemia? 2.What are other possibities. Dr.Naji from iraq
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Answer |
Check a urine dipstick to rule out glucosuria. If dipstick is also positive it suggests glucose in the urine. Else it may suggest galactosemia. However a urine chromatography would be useful as a screening test before going in for specific enzyme assays.
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