screening Flashcards
1
Q
Phenylketonuria (PKU) is an
A
aminoacidopathy
2
Q
Due to a deficiency of
A
phenylalanine hydroxylase
3
Q
phenylalanine hydroxylase function
A
converts
phenylalanine to tyrosine.
4
Q
Accumulation of phenylalanine
A
microcephaly, seizures and learning difficulties
5
Q
PKU is treated with
A
a low protein diet
6
Q
hypothyroidism TSH
A
If >40uIU/ml:
7
Q
suspecious for reevaluation TSH
A
20-40 uIU/ml:
8
Q
normal thy TSH
A
< 20 uIU/ml
9
Q
t4=…. is diagnostic
A
T4<6.6 mg
