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

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A newborn screening result shows elevated phenylalanine on the dried blood spot. Which enzyme deficiency is the MOST common cause of this finding?

Dihydropteridine reductase deficiency Phenylalanine hydroxylase deficiency Tyrosine aminotransferase deficiency GTP cyclohydrolase I deficiency

Correct Answer:

Phenylalanine hydroxylase deficiency

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