Medical Laboratory Scientist (MLS) ASCP Exam 2025 – 400 Free Practice Questions to Pass the Exam

Infants with galactosemia often present with jaundice due to the accumulation of galactose-1-phosphate in the liver, leading to liver dysfunction and impaired bilirubin metabolism. When newborns are unable to metabolize galactose because of a deficiency in the enzyme galactose-1-phosphate uridyltransferase, they can develop liver damage, which contributes to the development of jaundice. Jaundice manifests as a yellowing of the skin and sclera and is one of the hallmark signs seen in infants with this inherited metabolic disorder.

The other symptoms—such as excessive sleepiness, frequent crying, and persistent diarrhea—can occur in various conditions but are not as directly associated with galactosemia. Excessive sleepiness may be seen in numerous pathological conditions, frequent crying is a common behavior in infants, particularly due to discomfort or other environmental factors, and persistent diarrhea may suggest gastrointestinal issues rather than being a specific indicator of galactosemia. As such, jaundice remains the key clinical manifestation that directs further investigation for galactosemia in newborns.