Escherichia coli sepsis has been described in many patients with galactosemia. If the diagnosis of galactosemia is not made in the neonatal period, failure to thrive, chronic vomiting, hepatic cirrhosis, and mental retardation may develop in infants who survive. The diagnosis can be suspected clinically by the presence of the above symptoms, but some affected infants may be asymptomatic at the time of screening. Positive non-glucose urine reducing substances increases suspicion of the condition, but not all affected newborns will have a positive urine test. The most common of these are the Duarte and Los Angeles variants.
Further testing is required.
This is a rare defect manifest only by the development of cataracts, usually in the neonatal period, but occasionally delayed until adulthood. This is a very rare cause of galactosemia that may be either symptomatic or asymptomatic. Two screening tests are presently used to detect galactosemia. The test is abnormal when the enzyme activity is reduced and little or no fluorescence is observed. Total galactose levels are determined using either fluorometric or colorimetric metabolite assays to detect accumulation of blood galactose.