Which of the following may be associated with hyperphenylalaninemia that is refractory to management of dietary phenylalanine?
A) Tetrahydrobiopterin deficiency
B) Complete loss of phenylalanine hydroxylase activity
C) Dominant negative mutation in phenylalanine hydroxylase
D) Maternal PKU
E) Deficiency in phenylalanine uptake
Correct Answer:
Verified
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Q8: How does MCAD deficiency usually present?
A) In
Q9: Reduced melanin production in individuals with phenylketonuria
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