Forty-three states in the United States and the Distict of Columbia screen newborns for galactosemia. Washington State does not. Galactosemia is a rare inborn error of galactose metabolism which, when left untreated, results in severe neonatal disease and death. Survivors suffer chronic disability due to cataracts, cirrhosis, and mental retardation.
Treatment consists of withdrawal of galactose from the diet.
When screening tests were first developed in the 1960s, galactosemia was thought to be an ideal disorder for screening. Successful experience with treating the acute neonatal symptoms led many to believe that early diagnosis and treatment would lead to normal outcomes for affected children. However, as experience was gained, it appeared that newborn screening did not meet the anticipated expectations of improving the long-term prognosis for treated individuals. Turnaround time of the newborn screening results have not always been timely enough to prevent death from sepsis or the severe neonatal morbidity that resulted from the rapid toxic effects of galactose ingestion. In recent years, however, newborn screen turnaround time from birth to testing has decreased with improvements in mail handling, testing technology and earlier specimen collection.