MEDizzy - A 4-month~old boy presented with failure to thrive, rapid

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Metabolic Disorder Part 1

A 4-month~old boy presented with failure to thrive, rapid breathing, and repeated vomiting. On examination, there is hepatomegaly and abdominal sonography revealed renal calcification. Of the following, the MOST likely urine odor of this infant is

ExplanationTyrosinemia is the most likely diagnosis; these children have an unpleasant odor which has been described as boiled cabbage, rancid butter.