How to Recognize the Symptoms of Galactosemia

With an incidence of about one per 47,000 births, galactosemia is a rare genetic disorder that prevents a person from being able to metabolize galactose sugar properly. It can lead to a level of galactose in the blood that becomes toxic, leading to potentially serious health complications.

Instructions

Difficulty: Moderately Challenging

1. Recognize that galactosemia will exhibit no symptoms at birth. Though doctors can test to see if a newborn has galactosemia, no symptoms will be exhibited until the baby is repeatedly fed foods containing galactose and repeatedly fails to metabolize the sugar.
2. Know that the earliest symptoms of galactosemia include jaundice, diarrhea and vomiting. Though any number of maladies can cause diarrhea and vomiting, you should consult a doctor immediately if your infant develops jaundice alongside them. The American Liver Foundation endorses testing every infant with jaundice for galactosemia.
3. Recognize that the next symptom that will manifest is the infant's inability to gain weight. Bear in mind that both breast milk and regular baby formula contain galactose compounds. The infant will rapidly begin to show symptoms of the disorder if, in fact, she has it.
4. Watch for the development of cataracts. If the infant is switched over to a galactose-free diet promptly, the cataracts will generally recede completely and proper vision will develop as normal.
5. Bear in mind that liver disease and improper cognitive development will occur if galactosemia is left untreated. Death can even occur because the toxic levels of galactose in the baby's bloodstream leave it susceptible to E. coli poisoning.
6. Treat galactosemia by eliminating the infant's intake of foods containing galactose. Also be aware that two rarer and more serious forms of the disease also exist. The first, called "UDP galactose-4-epimerase deficiency," is extremely rare and causes nerve deafness. The second, "Galactose-1-phosphate uridyl transferase deficiency," can pose serious problems because the implementation of a galactose-free diet appears to have little effect.
7. Recognize that physical deficiencies such as cataracts will recede if galactosemia is detected early enough, but that any developmental, brain or nerve damage suffered will be permanent.

Tips & Warnings

• Be aware that babies in the United States are routinely screened for galactosemia. It is best for a diagnosis to be made as early as possible. The prognosis is excellent when the disease is detected early.
• Galactosemia can lead to death, sometimes quite rapidly, if its symptoms are detected but are ignored or incorrectly diagnosed. Speak to a doctor immediately if you have reason to suspect your infant may have galactosemia.

Who Can Help: