Galactosemia is a rare autosomal recessive inborn error of galactose metabolism.
Think of Galactosemia in a neonate who has persistent unexplained jaundice with poor feeding & weight gain. Such neonates are lethargic and hypotonic. They are prone to cataracts, encephalopathy and sepsis (esp E coli.)
Urine non-glucose reducing substance (NGRS) can be used as a screening test in a suspected case of galactosemia. Urine is first screened with a Benedict’s test for presence of Reducing Substances and if screened positive then the same sample has to be tested for glucose with urine dipstick. If dipstick is negative for Glucose, then urine is said to be positive for NGRS.
Confirm by quantitative estimation of RBC Galactose 1 Phosphate Uridyl Transferase (GALT) level.
Lactose free formula should be introduced promptly if index of suspicion is high. Life-long lactose free diet (milk and milk free) along with supportive treatment is the only treatment of galactosemia. Prenatal diagnosis can be done
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