An 11 day old infant presents to the ED with persistent emesis after every feed, along with progressive yellowing of skin since birth and a 30% weight loss since birth. Physical exam reveals normal vital signs and a jaundiced, slightly lethargic baby with notable hepatomegaly.

Parents report that the baby’s newborn metabolic screening has not yet returned.

Laboratory studies reveal total bilirubin of 19, direct 5.8, mildly elevated LFTs and a normal hemoglobin level.

What is your differential? Is this baby underweight or is this normal post-natal weight loss?

There is a wide differential to consider when faced with a jaundiced baby, but this child fits the characteristic presentation of galactosemia. This inborn error of metabolism prevents the breakdown of galactose and has an untreated mortality rate of 75%. It should be picked up as part of the core newborn screening tests.

In terms of weight loss, expect a 5-10% loss in the first week, but the baby should be back to birth weight by 10-14 days. This baby is clearly failing to thrive.

More important to the emergency physician than specifically identifying galactosemia is recognizing that this child needs admission, and to have a complete differential in mind for the jaundiced baby. See below for a breakdown of common causes:

  • Increased bili production:
    • Hemolytic disease
      • Isoantibodies (ABO/Rh)
      • Enzyme defects (G6PD/pyruvate kinase)
      • Structural defects (sphero-/elliptocytosis)
    • Birth trauma
    • Polycythemia
  • Impaired bili conjugation
    • Crigler-Najjar
    • Gilbert’s
  • Decreased bili excretion
    • Obstruction
      • Biliary atresia
      • Choledochal cyst
      • Dubin-Johnson Syndrome
      • Rotor Syndrome
  • Others
    • Metabolic
      • Galactosemia
      • Hypothyroidism
    • Infection (sepsis, UTI)
    • Breastfeeding
    • Drugs


Thanks to our new peds fellow Jenny Sanders for the case!

June 2024