AssessmentsHereditary fructose intolerance
Hereditary fructose intolerance
USMLE® Step 1 style questions USMLE
An 8-month-old male infant is brought to the emergency department for evaluation of failure to thrive. One month ago, the patient began vomiting after feedings and experienced weight loss. The patient has also had several visits to the pediatric emergency department following seizure episodes despite having no fever or signs of infection. The patient has appeared more tired than usual and is no longer interested in watching cartoons or playing with his parents. The patient’s diet consisted of breast milk until the patient reached 7 months of age. Afterwards, small servings of pureed fruits, ground meat, and juice were added to the patient’s diet. The patient is currently at the 25th percentile for weight, whereas at his 4 month check-up, he was at the 45th percentile. Temperature is 37.0°C (98.6°F), blood pressure is 91/49 mmHg, pulse is 110/min, and respiratory rate is 44/min. Physical examination is notable for hepatomegaly and jaundice of the skin. Urine dipstick is negative for glucose. Which of the following findings is most likely to be found on further evaluation?
Hereditary fructose intolerance is an autosomal recessive genetic disorder in which there is a deficiency of the aldolase B enzyme, which leads to the accumulation of fructose 1-phosphate. People with hereditary fructose intolerance present with severe hypoglycemia, vomiting, hepatomegaly, and renal failure.