Patient's question:
A slight increase in galacturonic acid requires treatment in the hospital? How long will it take to improve? Please help me!Doctor's answer:
Diagnosis is primarily based on clinical symptoms and measurement of relevant enzyme activity. Individuals with normal glucose levels in urine but a positive Benedict's test should be suspected of having galactosemia, and the diagnosis can usually be confirmed by identifying a deficiency in galactose metabolism enzymes within red blood cells. If there is a prenatal suspicion of galactosemia in the fetus, prenatal diagnosis can be performed through amniocentesis, or umbilical cord blood can be collected at birth to test for enzyme activity within red blood cells. If a pregnant woman has elevated galactose levels in her blood, regardless of whether she has a deficiency in galactose-1-phosphate uridyltransferase, it can cause harm to the fetus, including permanent intellectual disability. This is a laboratory standard and should be further clarified by a specialist.