What is Galactosemia and Should I have a Carrier Test? 

By  Staff Writer

What is Galactosemia and Should I have a Carrier Test?

What is Galactosemia and Should I have a Carrier Test?
The body’s inability to produce a simple sugar known as galactose is responsible for the genetic disorder known as galactosemia. Galactose is common in many foods, especially dairy products and baby formula. This means that symptoms can become evident shortly after birth. If left untreated, they can be life threatening.

About Galactosemia

A researcher by the name of Von Ruess first published his findings on galactosemia in 1908. His report included observations of an infant who was failing to thrive on breast milk. Within a decade, the condition was more readily recognizable and was typically treated by removing dairy products from the diet. The defective gene that causes galactosemia was eventually identified in 1956. Since then, scientists have found that mutations in the GALK1, GALE and GALT genes can cause galactosemia.

These genes give instructions for breaking down enzymes in galactose and other sugars that can be stored for energy. The specific mutated gene determines whether a child will develop type I, II or III of the disorder.

Symptoms of Galactosemia

Babies who have type I galactosemia have virtually no ability to break down galactose. This is called classic galactosemia. It is the most common variety of the disorder, and it also carries the most severe symptoms. If it is not treated immediately by the removal of a typical infant diet in favor of a low-galactose diet, it can prove to be deadly. Symptoms include difficulty feeding, lethargy and a failure to gain any weight. Many of these babies are characterized as failing to thrive. The skin and eyes may become jaundiced, and liver damage may occur. Bacterial infections known as sepsis and shock are frequent, serious complications. Many babies will develop cataracts, be diagnosed with intellectual disabilities and have speech problems if they are not treated.

Infants with type II galactosemia typically develop cataracts but have few or no other symptoms. Those affected by type III may develop a wide array of symptoms that range from mild to severe. Cataracts, delayed development, liver disease and intellectual disabilities are all possibilities.

Life Expectancy with Galactosemia

Galactosemia is highly treatable. When following a low-galactose diet, there is no reason for people with the classic form of the disorder not to enjoy a normal lifespan. However, it’s important to obtain treatment as soon as possible to limit the odds of developing cataracts, learning disabilities and speech defects.

Galactosemia Carriers

Adults who have siblings or other near blood relations who have galactosemia may find it sensible to be tested to find out if they are a carrier. Siblings who do not have galactosemia have a two-thirds chance of being a carrier if their parents are also carriers. Each brother and sister of a carrier have a 50 percent chance of being carriers themselves. This may make it reasonable for others to be tested for being carriers if their sibling tested positive for the mutation. Knowing of the high probability for having a child born with galactosemia means that an infant can immediately be started on a low-galactose diet to minimize complications.

Why Galactosemia Genetic Carrier Testing Is Important

Early detection and treatment are essential to ensuring that an infant won’t develop cataracts, learning disabilities or other complications. When parents are known carriers, then they and their health care providers can be prepared in advance to administer a low-galactose diet. Newborn screening is available at hospitals to make a final determination.

Use DNAcarriertests.com if you want to find out if you are a carrier of the genetic mutation that causes galactosemia. Our affordable, accurate and timely test results can give you peace of mind.

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