Galactosemia is an inherited metabolic disorder that makes your body unable to process a sugar called galactose. Galactosemia can be a problem for newborns because galactose is present in both breast milk and most baby formulas. It’s important to catch it early to avoid the complications of the disease, which can be serious and even life-threatening. U.S. hospitals screen for the condition at birth. With early diagnosis and a lactose-restricted diet, people with galactosemia can go on to lead relatively normal lives.
In newborns, signs of classic galactosemia begin to appear after a few days of feeding. Symptoms can be mild or severe and may include:
These symptoms require immediate medical attention. After a healthcare provider diagnoses galactosemia and you remove galactose from your baby’s diet, these symptoms should improve.
Galactosemia happens because of a gene mutation. You have to inherit it from both parents to get it. Each parent provides one copy of the mutated gene. But unless both copies of their galactosemia genes are mutated, the parents typically won’t have symptoms of the condition themselves, so symptoms in their baby can come as a surprise.
The mutated gene fails to produce the enzymes necessary to break down galactose for energy. This causes chemical products of galactose to accumulate in your body. There are three different genes involved that may be mutated. Each corresponds to a different type of galactosemia.
In the U.S. it is standard procedure to screen newborn babies for a list of disorders — including classic galactosemia — that can cause significant damage before symptoms appear. (This is sometimes called the PKU test, which refers to phenylketonuria, another condition this test can detect.) The screening is done by pricking your baby’s heel and drawing a little blood, usually about 24 hours after they are born. If your child has galactosemia, the blood test will show reduced GALT enzyme activity in their blood. Your healthcare team will follow up these results with genetic testing to identify the type of galactosemia your child has.
The medicines that can be thought of use are:-