Warning Signs And Progression Of Galactosemia

Jaundice

Jaundice occurs in infants who have type I galactosemia. This type occurs when there are mutations in an individual's galactose-1-phosphate uridyl transferase gene. The GALT gene converts galactose into glucose, which is the main energy source the majority of cells use. Jaundice is caused by an excess of bilirubin in their blood. This condition is commonly seen in infants and occurs when the liver hasn't developed enough to filter bilirubin. In most cases, it resolves on its own as the liver develops. But in cases involving GALT gene mutations, the bilirubin buildups may become severe enough to cause potentially life-threatening complications. The most characteristic symptom of jaundice is yellowing of an infant's skin and eyes. If coupled with other typical galactosemia symptoms, doctors should test for the possibility of galactosemia.

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