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?
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1 comment:
Weaning
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.
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