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Exam questionKROK 2Medicine ยท 2010

A 4-month-old girl with blond hair and blue eyes has "mousy"odor of sweat and urine, delayed psychomotoric development. The most typical laboratory data for this disorder is:

Answer options

  1. High concentration of chlorides in sweat
  2. Positive urine ferric chloride test
  3. High level of oxyproline in urine
  4. High level of glycosaminoglycanes in urine
  5. Low level of thyroid gland hormones in blood
Correct answer

Positive urine ferric chloride test

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