Untreated phenylketonuria (PKU)

Untreated phenylketonuria (PKU)

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1. Which manifestation is a characteristic feature of untreated phenylketonuria (PKU)?

A. Increased skin pigmentation
B. Excessive urination
C. Fragile bones
D. Small stature

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2. What is the expected result of a deficiency in the enzyme phenylalanine hydroxylase (PAH)?

A. High levels of phenylalanine; low levels of tyrosine
B. High levels of phenylalanine; high levels of tyrosine
C. Low levels of phenylalanine; low levels of tyrosine
D. Low levels of phenylalanine; high levels of tyrosine

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3. Which substance fails to form normally in individuals with Marfan syndrome?

A. Elastin
B. Glycogen
C. Collagen
D. Fibrillin

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