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.

Diarrhea

Galactosemia can cause complications to an infant's intestinal health. Diarrhea is one of the many potential symptoms of gastrointestinal distress and inability to process foods. One of the most difficult things about galactosemia is its symptoms tend to mimic other disorders, so if parents aren't aware they carry the gene, diagnosis sometimes takes a long time.

If diarrhea is coupled with lack of appetite, vomiting, weight loss, or cognitive issues, doctors should screen for galactosemia and severe illnesses. Symptoms like vomiting and diarrhea occur because the infant's body isn't able to process the galactose in their food. Other common causes of baby diarrhea include sensitivity to medicine, ingestion of toxic substances, drinking excess fruit juice, or being infected by bacteria, parasites, or viruses.