Galactosemia

Galactosemia is a rare autosomal recessive inborn error of galactose metabolism.

Galactosemia should be suspected in a neonate who has persistent unexplained jaundice with poor feeding and weight gain. Such a neonate may present with lethargy and hypotonia and is more prone to gut sepsis(E. coli), encephalopathy and later on Cataracts.

Urine non-glucose reducing substance (NGRS) is a good screening test in such suspected cases of galactosemia. Urine is first screened for presence of Reducing Substances with a Benedict’s test and if screened positive then the “same sample” has to be tested for glucose with a urine dipstick. If dipstick is negative for Glucose, then urine is said to be positive for NGRS.

Confirmation is done by a quantitative estimation of RBC Galactose 1 Phosphate Uridyl Transferase (GALT)

Lactose free feeds should be introduced promptly if index of suspicion is high. Lifelong lactose free diet (milk and milk free) along with supportive treatment is the only treatment of galactosemia. Prenatal diagnosis can be done.