If parents receive a call from a healthcare provider saying the screening test indicates possible galactosemia, they should promptly stop milk products and have a blood test done for galactosemia through their doctor.
Since galactosemia is a recessive genetic disease, it is usually first detected on a newborn screening test, as most people are not aware that they are carriers of a gene mutation causing the disease.
Although galactosemia occurs in all ethnic groups worldwide, some mutations cause a less severe type of disease and are more commonly seen in specific ethnic groups, such as African-Americans.
Galactosemia is an inherited disease in which the body is unable to metabolize the simple sugar galactose, which is found primarily in dairy products but is also produced by the body.
Individuals with the Duarte variant have approximately 5-20 percent of the enzyme activity necessary to metabolize this sugar and often do not have signs or symptoms of galactosemia.
However, even with proper treatment, children with galactosemia often have a lower intelligence quotient (IQ) than their siblings, and they frequently have speech problems.
Currently, formulas made from soy are recommended for infants with galactosemia, primary and secondary lactase deficiency and for families choosing a vegetarian lifestyle.
If there is a family history of galactosemia, genetic counseling is recommended for prospective parents as they make decisions regarding pregnancy and prenatal testing.
Unfortunately, as of 2004, parents had no way of knowing if they carry the mutated gene that causes galactosemia until they have a child diagnosed with the disease.
If an infant with galactosemia is given milk, byproducts of galactose will build up in the baby's body, causing damage to the liver, kidneys, brain, and eyes.