Question
How to check if a newborn has galactosemia?
Answer
The diagnosis of galactosemia includes urine galactose tests, blood galactose concentration measurements, and enzyme activity tests. The urine test can use the glucose oxidase method to detect urinal sugars, and if a positive reaction is observed, paper chromatography is used to confirm if it is galactose. Additionally, Beutler’s method is commonly used for newborn screening to test enzyme activity, and if an enzyme activity defect is found, it can be confirmed through enzyme reactions in the liver, intestinal mucosa, fibroblasts, and white blood cells. The normal blood galactose concentration is 110 to 194 μmol/L, while the concentration in galactosemia patients will decrease. The concentrations of galactose and galactitol in urine can also be measured using enzymatic methods.