A 6-month-old infant male is brought to the emergency department with a 1-hour history of vomiting and convulsions. He was born at home and had sporadic prenatal care though his parents say that he appeared healthy at birth. He initially fed well; however, his parents have noticed that he has been feeding poorly and is very irritable since they moved on to baby foods. They have also noticed mild yellowing of his skin but assumed it would go away over time. On presentation, he is found to be very sleepy, and physical exam reveals an enlarged liver and spleen. The rest of the physical exam is normal. Which of the following enzymes is most likely to be deficient in this patient?

Question

Quizplus · Accepted Answer

Eductional Objective: Aldolase B deficiency causes hereditary fructose intolerance.  This disease manifests after introduction of fructose into the diet with vomiting and hypoglycemia about 20-30 minutes after fructose ingestion.  These infants can present with failure to thrive, jaundice, and hepatomegaly.

A 6-Month-Old Infant Male Is Brought to the Emergency Department