What Is Galactosemia?

By albert
Reviewed: Dr. Mera
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Galactosemia is a congenital metabolic disorder in which galactose (a sugar byproduct of lactose) accumulates in blood. The condition arises because the body is incapable of processing and utilizing galactose to produce energy. Three types of galactosemia exist, associated to three different gene mutations. These genes are responsible for producing specific enzymes that are essential for breaking down galactose.

This causes galactose to build up in blood, which leads to galactosemia. The disorder is usually diagnosed in the early days of life, since galactose is found in breast milk, cow’s milk, some vegetables, and dairy products. Galactosemia can be life-threatening, causing many problems for newborns, if not treated immediately.

1. Symptoms of Galactosemia

The symptoms of galactosemia start in the early days of life. The baby is born normal. However, symptoms begin as soon as the baby starts feeding on breastmilk or formulas containing lactose. The first signs include loss of appetite and vomiting.

After a while, liver dysfunction may ensue, and the baby’s skin, and mucous membranes may become yellowish (jaundice). If the condition is left untreated, poor growth (during the first weeks of life), and cataracts, may be observed.


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