Final answer:
Galactosemia presents in infants with symptoms such as diarrhea, vomiting, poor feeding, and lethargy due to the inability to metabolism galactose. Complications can include anemia, jaundice, and neurological issues. Immediate dietary management with a lactose-free diet is essential.
Step-by-step explanation:
Infants with galactosemia typically exhibit symptoms like diarrhea, vomiting, poor feeding, and lethargy. In severe cases, they may have an enlarged liver, edema, difficulty with temperature regulation, and developmental delays.
Galactosemia is a genetic metabolic disorder resulting from the deficiency of an enzyme called galactose-1-phosphate uridyl transferase. This enzyme is critical for the proper metabolism of galactose, a sugar found in lactose, the main carbohydrate of milk. Without sufficient levels of this enzyme, galactose accumulates in the infant's body, leading to toxic effects.
The early symptoms in infants are often nonspecific but significant and include diarrhea, vomiting, and insufficient weight gain due to difficulty feeding. If untreated, galactosemia can cause life-threatening complications like edema, anemia, jaundice, and hypoglycemia. Other clinical signs may include hypotonia (limpness), lethargy, irritability, and in some cases, more severe neurological manifestations such as seizures may occur.
Infants diagnosed with galactosemia are placed on a strict lactose-free diet to avoid the intake of galactose. This usually involves the use of lactose-free infant formulas and vigilant dietary management to ensure continued avoidance of galactose-containing foods.