If an infant is found to have hyperphenylalaninemia based on a newborn screen, but this defect doesn't respond to a low phenylalanine diet, what type of molecular defect would be suspected?
A) Null mutation for phenylalanine hydroxylase
B) Dominant negative mutation for phenylalanine hydroxylase
C) A defect in tetrahydrobiopterin (BH4) metabolism
D) A mutation in tyrosine hydroxylase
E) A mutation in tryptophan hydroxylase
Correct Answer:
Verified
Q13: The genes associated with familial hypercholesterolemia all
Q14: Which of the following is the major
Q15: Which patients with mutations in phenylalanine hydroxylase
Q16: What phenomenon has a large effect on
Q17: Where are GM2 ganglioside and mucopolysaccharides digested?
A)
Q19: Why can vitamins be used to treat
Q20: Genetic defects that impair the activity of
Q21: What is the mechanism thought to be
Q22: Which of the following is true
Q23: What is the likely cause when a
Unlock this Answer For Free Now!
View this answer and more for free by performing one of the following actions
Scan the QR code to install the App and get 2 free unlocks
Unlock quizzes for free by uploading documents