Galactosemiaenparentshttps://kidshealth.org/EN/images/headers/KH_generic_header_02_2.jpgSome babies are born with the metabolic disorder glactosemia. They must drink soy-based formula instead of breast milk or a cow's milk-based formula.Galactosemia, metabolic disorder, soy-based formula, soy formula, galactose, lactose, soy, dairy, calcium, cataracts, newborns, newborn screening, newborn tests, blood tests, urine tests, 02/24/202003/10/202003/10/2020Michael F. Cellucci, MD03/02/20201b375110-e26c-481b-b5b5-7b0b7e5908a7https://kidshealth.org/ws/RadyChildrens/en/parents/galactosemia.html/<h3>What Is Galactosemia?</h3> <p>Galactosemia is a metabolic disorder that some babies are born with. It's caused by problem with the enzymes that break down the sugar galactose. Babies with galactosemia (geh-lak-teh-SEE-mee-uh) have high levels of galactose in their blood.</p> <p>Lactose is the main type of sugar in milk, milk-based formulas, and breast milk. Lactose is made up of <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/glucose.html/">glucose</a> and galactose. That's why babies with galactosemia can't have milk and dairy products.</p> <p>There are three types of galactosemia, depending on which enzyme doesn't work. The most common and severe type is called <strong>classic galactosemia</strong>.</p> <h3>What Are the Signs &amp; Symptoms of Galactosemia?</h3> <p>Signs of classic galactosemia usually start in a baby's first week of life. They include:</p> <ul> <li>poor feeding</li> <li><a href="https://kidshealth.org/ws/RadyChildrens/en/parents/vomit.html/">vomiting</a></li> <li>fussiness or irritability</li> <li>yellow skin and eyes (jaundice) and a big liver</li> <li><a href="https://kidshealth.org/ws/RadyChildrens/en/parents/congenital-cataracts.html/">cataracts</a> (cloudy eye lenses)</li> <li>blood infections (<a href="https://kidshealth.org/ws/RadyChildrens/en/parents/sepsis.html/">sepsis</a>)</li> </ul> <p>If the condition isn't treated, a baby may have trouble growing and gaining weight, and slowed development.</p> <h3>How Is Galactosemia Diagnosed?</h3> <p>All newborn babies in the United States have their blood tested for signs of galactosemia as part of <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/newborn-screening-tests.html/">newborn screening</a>.</p> <p>Doctors also do other tests if they suspect galactosemia, such as:</p> <ul> <li><a href="https://kidshealth.org/ws/RadyChildrens/en/parents/labtest7.html/">urine tests</a></li> <li>other blood tests</li> <li><a href="https://kidshealth.org/ws/RadyChildrens/en/parents/genetics.html/">genetic tests</a></li> </ul> <h3>How Is Galactosemia Treated?</h3> <p>Untreated galactosemia can lead to liver damage, kidney failure, and intellectual disabilities. So doctors will put babies with galactosemia on a soy formula (which doesn't contain lactose) as soon as possible. Babies must drink soy-based formula instead of breast milk or a cow's milk-based formula. Milk-based "lactose-free" formulas are not recommended.</p> <p>Kids with classic galactosemia must continue to keep milk and other dairy products out of their diets. Most will need to take&nbsp;<a href="https://kidshealth.org/ws/RadyChildrens/en/parents/calcium.html/">calcium</a> supplements.</p> <p>Children with milder types of galactosemia might be able to have some dairy. That's because the enzymes that break down galactose are partially working.</p> <h3>What Causes Galactosemia?</h3> <p>Galactosemia happens when there's a change (mutation) in the <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/about-genetics.html/">genes</a> that make an enzyme that breaks down galactose. To have galactosemia, a child must inherit two galactosemia genes, one from each parent.</p> <p>In galactosemia, galactose and its byproducts build up in the blood. This can damage cells and parts of the body.</p> <h3>What Else Should I Know?</h3> <p>Early diagnosis and treatment can help reverse cataracts, aid growth, and improve liver and kidney problems. Even with good dietary treatment, children with galactosemia may have:</p> <ul> <li>weak bones</li> <li>speech and learning problems</li> <li>ovarian failure (<a href="https://kidshealth.org/ws/RadyChildrens/en/parents/delayed-puberty.html/">delayed puberty</a>, irregular or no <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/talk-about-menstruation.html/">periods</a>, infertility)</li> </ul> <p>Doctors will closely watch kids who have galactosemia. They'll check their growth and development, do eye exams to look for cataracts, and measure galactose levels in the blood.</p> <p>Because galactosemia is a genetic condition, consider speaking to a <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/genetic-counseling.html/">genetic counselor</a> about testing other family members and to learn how galactosemia runs in families.</p> <p>You also can find more information and support online at:</p> <ul> <li><a href="http://www.galactosemia.org/">Galactosemia Foundation</a></li> <li><a href="https://www.galactosemianetwork.org/galactosemia">International Galactosemia Network</a></li> </ul>
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