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低血糖症、乳糖耐受不良、半乳糖血症、腹泻、先天性乳糖酶缺乏、恶心、β-氨基酸尿、先天性乳糖不耐受、蛋白尿
Galactosemia is an autosomal-recessive deficiency of galactose-1-phosphate uridyltransferase (GALT), causing galactose-1-phosphate accumulation. Presenting in the neonatal period after milk feeding: jaundice, vomiting, hepatomegaly/cirrhosis, cataracts, sepsis, and intellectual disability. Newborn screening detects it. Treatment: lifelong lactose/galactose-free diet; monitor complications (speech, ovarian, neurologic).
Jaundice; vomiting; hepatomegaly; cataracts; poor feeding; sepsis; intellectual disability
GALT deficiency blocks galactose metabolism; toxic galactose-1-phosphate accumulates in liver/brain/lens, causing organ damage.
Lifelong lactose/galactose-free diet; soy formula; monitor liver/eye/neuro/ovarian complications
Newborn screening; genetic counseling; strict galactose avoidance.
It is recommended to visit the Pediatrics department; an appointment can be booked on this platform before the visit.
Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.
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