Friday, August 1, 2008


At the time of weaning, a 6 month old infant has irritability and vomiting. Studies show recurrent episodes of hypoglycemia after feeding, fructosuria, hepatomegaly, jaundice, aminoaciduria, a metabolic acidosis, and low urine ketones. The child begins to develop failure to thrive. Milk is okay. Sweets and fruits are not. This is not a glycogen- or gluconeogenesis-related problem.

Challenge: This is a recessive disorder caused by deficiency in what enzyme?

1 comment:

Craig said...


This is hereditary fructose intolerance (also fructosemia) caused by deficiency in fructose 1-phosphate aldolase B (fructose-1-PO4 -> DHAP/GAP). The hypoglycemia is presumed to be due to accumulation of fructose-1-PO4 which inhibits gluconeogenesis.

Source: UpToDate.