What are the causes of galactosemia?

Condition analysis:
Galactosemia is hereditary. To have the disease, a child must inherit the tendency from both parents. The incidence of the disease is approximately 1 in 20,000 live births. For each pregnancy, in such a family, there is a 1 in 4 chance a baby will be born with the deficiency. Because of the potentially disastrous effects of late diagnosis, many provinces have mandatory neonatal screening programs for galactosemia.

Instructions:
Signs and Symptoms of Galactosemia
Soon after birth, infants with galactosemia may develop weakness, diarrhea, or vomiting, commonly after consuming milk. Some infants may refuse to eat and could have difficulty putting on weight. Symptoms may develop very soon after birth, and in some cases appear within several days in infants who consume milk or other foods containing lactose or galactose.

Patients may develop problems with the liver, including enlargement and cirrhosis, a condition in which scar tissue replaces healthy liver tissue. Liver failure, which could be life-threatening, may occur in some patients. Jaundice, an abnormal yellow coloring of the skin and eyes, is a sign of liver failure that some patients may experience.

If untreated, patients with galactosemia may develop bacterial infections. E. coli infections are especially common in infants, and can lead to death if not treated. Infections may be caused by damage to the intestinal wall by the buildup of galactose.