Patient's question:
My daughter is likely to have galactosemia because her father has galactosemia. I want to know how my child will develop galactosemia and would like to have a hospital examination. How can galactosemia be tested carefully?Doctor's answer:
The condition described by the patient, galactosemia, can be tested and clinically diagnosed through careful examination. Urine galactose testing shows positive for urine glucose using the glucose oxidase method, but negative for urine glucose using paper chromatography, which can identify it as galactose. Newborn screening for galactosemia uses the Beutler method for screening, with the disadvantage being that the enzyme is observed for fluorescence production to serve as the basis for the final assessment level. This condition does not produce fluorescence, and the deficiency in enzyme activity can also be obtained from hepatointestinal mucosal fibroblasts and white blood cells. The measured blood galactose concentration is normal, with a concentration range of 110–194 μmol/L. The patient's blood concentration is decreased; urine galactose and galactitol concentrations can be measured using the enzyme method.