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Exam questionKROK 2Medicine ยท 2024

The mother of a 6-month-old child complains that her child has seizures and exhibits regression of acquired skills. During examination, the child is inert, has dry skin, reduced muscle tone, and light-colored hair, but presents with no lags in physical development. The child's urine has a moldy smell. What pathology must be ruled out in this child?

Answer options

  1. Phenylketonuria
  2. Albinism
  3. Homocystinuria
  4. Tyrosinemia
  5. Alkaptonuria
Correct answer

Phenylketonuria

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