Patient's question:
Galactosemia: Galactose-1-phosphate uridyltransferase testDoctor's answer:
Disease Analysis:Galactosemia is a congenital metabolic disorder caused by a deficiency of galactose-1-phosphateuridyltransferase (Gal-1-PUT). Typical cases manifest during the perinatal period, often showing symptoms such as vomiting, refusal to eat, poor weight gain, and lethargy within days after consuming dairy products, followed by jaundice and hepatomegaly. If not diagnosed promptly and dairy products continue to be consumed, the condition will worsen, leading to end-stage symptoms such as ascites, liver failure, and bleeding within 2 to 5 weeks.
Guidance:
After early diagnosis, lactose should be excluded from the diet. Some advocate that dietary restrictions can be lifted after a certain age, but it is generally recommended to adhere to this lifelong. With timely treatment, conditions such as cataracts, hepatomegaly, and cirrhosis can be reversed. It is important to note that asymptomatic homozygous females who consume high-lactose foods may experience elevated blood galactose levels. Infants born to these women may develop galactosemia, especially for mothers who have previously given birth to infants with galactosemia. During pregnancy, these mothers should limit lactose intake.