DIAGNOSIS
To diagnose GALT deficiency, a detailed study of family and medical history, physical examination, and specific biochemical testing are used. The following tests are also available:
Genetic testing. This test can be done on an amniotic fluid sample or CVS. It helps determine if the condition is likely to be present in a fetus. In a newborn with a verified GALT enzyme deficit, genetic testing is used after delivery to ascertain the particular type of gene mutation.
Newborn screening. This test is used to ensure the growth of the baby. A blood sample will be obtained from a tiny cut in the baby’s foot for some tests.
TREATMENT
One of the most common treatments for GALT deficiency is avoiding galactose. Your doctor will develop and implement a diet for your kid if he or she has galactosemia. Lactose and galactose are removed from their diet. Instead, infants are fed soy-based formula and are not permitted to consume milk or milk derivatives.
In addition to avoiding dairy, your doctor may advise you to avoid certain fruits, vegetables, and sweets that contain galactose. Your baby may also need vitamin and mineral supplements, such as vitamin D, calcium, vitamin C, and vitamin K.