What's the diagnosis? A sick infant
February 11, 2025
You are seeing a 7-day old infant whose mother says is just not acting right. The day before the baby was fussy, wanted to be held all day and vomited once. Today she is not interested in anything and threw up again the morning. The mother shares that the baby was born at home and has been exclusively breastfeeding. The infant was admitted to the hospital with blood and urine obtained for testing. The urine culture came back positive for E Coli. Does that explain this or is there something else going on?
You call the state lab to check on the newborn metabolic screen and are told the lab never received a sample for this infant. The mother reports the infant was born at home and has not seen a health care provider until today.
No metabolic screen - sick infant in the first week - E coli infection - exclusively breastfeeding. This is strongly suspicious of galactosemia. You order a stat metabolic screen and call the state lab and explain the urgency. They call back shortly that the screen is positive for galactosemia.