Question
What does it mean if the galactose level is slightly elevated? Do I need to seek medical treatment? How long does the treatment take? Please help me!
Answer
The diagnosis of a slightly elevated galactose level is primarily based on clinical symptoms and related enzyme activity measurements. Those with normal urine glucose levels but positive Bence-Jones tests should suspect galactosemia, which can usually be confirmed by the lack of galactose metabolism enzymes in red blood cells. If there is a prenatal suspicion of galactosemia in the fetus, prenatal diagnosis can be conducted through amniocentesis, or enzyme activity in red blood cells can be checked at birth. If the mother’s blood galactose concentration is elevated, whether or not there is a deficiency in galactose-1-phosphate uridylyltransferase, it may cause harm to the fetus, including permanent intellectual disability. These are laboratory standards that require further confirmation by a specialist.