1. Without treatment, mortality in infants with galactosemia is about 75 %. 2. A person with galactosemia doesn't have one of these enzymes. 3. The routine NBS is accurate for detection of galactosemia . 4. This is largely due to a lack of functional animal models of classic galactosemia . 5. Galactosemia is sometimes confused with lactose intolerance, but galactosemia is a more serious condition.6. Galactosemia is sometimes confused with lactose intolerance, but galactosemia is a more serious condition. 7. Carriers show no symptoms of galactosemia . 8. Studies of Type III galactosemia symptoms are mostly descriptive, and precise pathogenic mechanisms remain unknown. 9. Because early intervention is key, galactosemia is included in newborn screening programs in many areas. 10. Approximately 70 % of galactosemia -causing alleles have a single missense mutation in exon 6.
