One in every 60,000 Caucasian babies is born with galactosemia, an inherited disorder in which your body cannot break down a simple sugar found in milk, states MedlinePlus. Infants, children and adults with this disorder must follow a strict galactose-free diet to prevent serious complications, such as liver disease and growth failure.
About Galactosemia
Galactosemia is an inherited disorder caused by a genetic defect. Classic galactosemia is the most common of the 3 forms of the disease. It is characterized by a deficiency in galactose-1-phosphate uridyl transferase. This enzyme is necessary to break down galactose, a simple sugar derived from lactose. When galactose builds up in the liver, kidneys, eyes, brain and reproductive organs it damages these tissues. A heel-prick blood test screens for galactosemia at birth.
Features and Complications
Infants with galactosemia who consume lactose-containing formula or breast milk may exhibit fatigue, irritability, seizures and jaundice. They may also display vomiting, poor feeding and failure to gain weight. If they continue to have exposure to sources of galactose, there are severe complications. A buildup of galcatose in the brain may lead to uncontrollable tremors and mental retardation. Cataracts, or clouding of the eyes, and speech impediments are also risks. Life-threatening blood infections and liver and kidney failure can lead to death.
Treatment
Lifelong adherence to a lactose and galactose-free diet is the only treatment for galactosemia. Avoid milk or dairy products and use caution with packaged foods. Look for ingredients such as whey, casein, lactulose and curds. Certain medications and fruits contain galactose, as do some candies. Infants with the disorder can take soy protein-based formula, formula in which proteins are already broken down, or other lactose-free formula. Regular testing can determine levels of toxic substances in your blood and urine. See a registered dietitian to ensure that your diet is galactose-free and adequate in important nutrients.
Outlook
The outlook for people with galactosemia is variable. Infants who start treatment within the first 10 days of life have the best prognosis. It is impossible to avoid all galactose, as your body makes small amounts. Mild cognitive impairment can occur despite early diagnosis and strict diet compliance. Females may experience irregular menstruation and ovarian failure. Genetic testing can determine if galactosemia runs in your family, and if your unborn child is at risk.
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