ABMGG Clinical Biochemical Genetics Practice Questions - ABMGG Clinical Biochemical Genetics Certification Exam

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In a patient with suspected urea cycle disorder, which plasma amino acid finding is most consistent with ornithine transcarbamylase (OTC) deficiency?

Elevated citrulline Elevated argininosuccinic acid Low citrulline with elevated glutamine and alanine Elevated arginine

Correct Answer:

Low citrulline with elevated glutamine and alanine

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