84-92 METABOLIC DISORDER Flashcards
1
Q
Accumulation of phenylalanine
A
Phenylketonuria
2
Q
Phenylketonuria: deficiency of enzyme
A
Phenylalanine hydroxylase & cofactor tetrahydrobiopterin
3
Q
Musty or mousey odor
A
Phenylketonuria
4
Q
Treatment of PHENYLKETONURIA
A
Diet restriction: Low phenylalanine diet