Q:

A 3-year-old boy presented with history of hyperactivity and mild mental retardation. Past history revealed repeated projectile vomiting with normal abdominal sonography

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A 3-year-old boy presented with history of hyperactivity and mild mental retardation. Past history revealed repeated projectile vomiting with normal abdominal sonography, On examination, there are eczematoid rash with lighter skin, microcephaly, and mild spasticity with exaggerated tendon reflexes. Of the following, the MOST likely urine odor of this baby is


  1. musty
  2. rotting fish
  3. sweaty feet
  4. boiled cabbage
  5. swimming pool

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(A). Phenylketonurea is the most likely diagnosis; these children have an unpleasant odor of phenylacetic acid, which has been described as musty or mousey.
> Hawkinsinuria ------Swimming pool
> Isovaleric acidemias ------ Sweaty feet
> Trimethylaminuria------ Rotting fish
> Tyrosinemia------Boiled cabbage, rancid butte

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