Q:

A 9-month-old boy with exclusive breast feeding presented with jaundice, vomiting, lethargy

Anwaar
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2022-09-11
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A 9-month-old boy with exclusive breast feeding presented with jaundice, vomiting, lethargy, hepatomegaly,and hypoglycemic fits when sweetened cereal added.
Laboratory findings showed prolonged clotting time, hypoalbuminemia, elevation of bilirubin and transaminase levels, and proxrmal tubular dysfunction.
Of the following, the MOST likely diagnosis is 

  1. tyrosinemia
  2. galactosemia
  3. organic acidemias
  4. maple syrup urine disease
  5. hereditary fructose intolerance
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Anwaar
2022-09-11
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(E). Patients with hereditary fructose intolerance HFl are asymptomatic until fructose or sucrose (table sugar) is ingested (usually from fruit, fruitjuice, or sweetened cereal). Symptoms may occur early in life, soon after birth if foods or formulas containing these sugars are introduced into the diet

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