Thursday, October 28, 2010


You are asked to consult on a newborn who is several days old and has persistent jaundice, vomiting, poor feeding, and failure to thrive. She was born at home to a 30 year old healthy G1P1 mother. They did undergo prenatal screening but the patient has not seen any doctors since birth. When you examine the patient, you note a jaundiced lethargic infant with hepatomegaly and hypotonia. The fontanelle is full, and there is some edema and possibly ascites. Two weeks later, lenticular cataracts are noted; if this is not caught early, patients with this disease develop a nuclear cataract where the nucleus of the lens looks like a cloud of dust. Laboratory tests in the infant show a hyperbilirubinemia, abnormal LFTs, coagulopathy, and increased levels of plasma phenylalanine, tyrosine, and methionine.

Challenge: What's a possible diagnosis?

Image is in the public domain.


Anonymous said...


sid said...


Craig Chen said...

galactosemia! the inherited metabolic disorders always give me trouble

Galactosemia can result from deficiencies in 3 separate enzymes that metabolize galactose (produced from lactase acting on lactose to produce glucose and galactose). The classic enzyme deficiency is galactose-1-phosphate uridyl transferase (GALT).

Source: UpToDate.