What Your Test Results Mean:

Carriers typically do not show symptoms, but carriers are at an increased risk for having a child born with this disease depending on their partner’s carrier status. Reflexive carrier testing for your partner is recommended in addition to consulting with a genetic counselor.

Disease Explained:

Galactosemia is an inherited metabolic disorder that prevents the body from processing galactose, a simple sugar. If infants are not promptly treated with a low galactose diet, symptoms and complications can occur days after birth. Feeding difficulties, lethargy, failure to thrive, jaundice, as well as sepsis (a severe bacterial infection) and shock may be seen in untreated individuals. Affected females may develop ovarian failure. Children with this disorder are at in increased risk for cataracts, delayed development, speech difficulties, and intellectual disabilities. Those with this condition must alter their diet to avoid all milk and milk-containing products to avoid galactose. Antibiotics can be effective in preventing sepsis.

How the Genetics Works:

Galactosemia is an autosomal recessive disorder caused by pathogenic variants in the GALT gene. All individuals have two copies of the GALT gene. Carriers of galactosemia have a variant in one copy of the GALT gene while individuals with galactosemia have variants in both copies of the GALT gene, one inherited from each parent. Risk for two carriers to have a child with the disorder is 25%.