Question 1
A newborn screening result shows elevated phenylalanine on the dried blood spot. Which enzyme deficiency is the MOST common cause of this finding?
Correct Answer:
Phenylalanine hydroxylase deficiency
Question 2
A 5-day-old infant presents with poor feeding, lethargy, and a distinctive sweet/burnt sugar odor. Plasma amino acid analysis shows markedly elevated leucine, isoleucine, and valine. What is the most likely diagnosis?
Correct Answer:
Maple syrup urine disease
Question 3
In a patient with suspected urea cycle disorder, which plasma amino acid finding is most consistent with ornithine transcarbamylase (OTC) deficiency?
Correct Answer:
Low citrulline with elevated glutamine and alanine
Question 4
A 2-year-old child presents with developmental regression, seizures, and eczema. Urine organic acids show elevated phenylpyruvic acid and phenylacetic acid. Which dietary intervention is the mainstay of treatment?
Correct Answer:
Restriction of phenylalanine intake with medical formula
Question 5
Which laboratory finding BEST distinguishes tyrosinemia type I from type II?
Correct Answer:
Elevated urinary succinylacetone
Question 1
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About this Exam

Prepare with the ABMGG Clinical Biochemical Genetics Practice Questions - ABMGG Clinical Biochemical Genetics Certification Exam practice quiz. This question bank includes 100 questions covering deficiency, acid, elevated, enzyme, and caused. Use it to review important concepts, identify knowledge gaps, and build confidence for the related exam, course, or assessment.

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

This practice set contains 100 questions from the matching question bank and focuses on deficiency, acid, elevated, enzyme, and caused. Work through each question carefully, review the provided solutions, and revisit topics that need more study before your next attempt.

This is an independent study resource intended for practice and review; it is not an official examination or an endorsement by any organization named in the title.

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