Galactosemia is an autosomal recessive inherited disorder of galactose metabolism. Due to enzyme deficiencies, galactose cannot be converted into glucose, leading to a series of symptoms caused by reduced glucose levels and the toxic effects of galactose and its intermediate metabolites.

bubble_chart Clinical Manifestations

Symptoms appear in infants after breastfeeding or cow's milk feeding. The severity of symptoms is related to the amount and duration of milk intake. In mild cases, the infant appears normal for a period after birth, followed by feeding difficulties, refusal to eat, hepatomegaly, susceptibility to internal visual obstruction, and delayed intellectual development. In severe cases, symptoms appear early, with persistent jaundice, vomiting, diarrhea, hepatosplenomegaly, susceptibility to sepsis, and possible convulsions due to hypoglycemia; this may be followed by cirrhosis, edema, ascites, and bleeding tendencies.

bubble_chart Auxiliary Examination

1. Increased blood galactose concentration. Decreased or absent activity of galactose-1-phosphate uridyltransferase in red blood cells.
2. Positive urine Benedict's test, negative urine glucose test. Proteinuria and aminoaciduria may occur.
3. Abnormal liver function.
4. Newborn screening for galactosemia has been implemented both domestically and internationally to facilitate early detection and treatment, which helps prevent the onset of the disease and intellectual disability.

bubble_chart Treatment Measures

1. Dietary aspect: Completely discontinue dairy products, and dietary control is required for at least 3 years. At the same time, feed with cereal-based foods (such as rice flour, cake flour, etc.), supplemented with vitamins, and introduce complementary foods on schedule. Other types of proteins (such as meat, eggs, etc.) and fats are not restricted. Treatment should begin as early as possible; delayed treatment may result in irreversible nervous system injury.
2. White internal visual obstruction: Requires ophthalmic surgical treatment.
3. Other symptomatic treatments: Such as treating hypoglycemia, correcting dehydration and acidosis, anti-infection measures, etc.