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A 4-year-old boy of a first-degree consanguineous couple was noted by the parents to have darkening of the urine to an almost black color when it was left standing. He has a normal sibling, and there are no other medical problems. Growth and development to date are normal. Which of the following is most likely to be elevated in this patient?
A 4-year-old boy of a first-degree consanguineous couple was noted by the parents to have darkening of the urine to an almost black color when it was left standing. He has a normal sibling, and there are no other medical problems. Growth and development to date are normal. Which of the following is most likely to be elevated in this patient?
Updated On: Aug 20, 2024
- Methylmalonate
- Homogentisate
- Phenylpyruvate
- α-Ketoisovalerate
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The Correct Option is B
Solution and Explanation
The correct option is (B): Homogentisate.
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