Biochem Metabolism Flashcards
1
Q
Rate limiting enzyme of glycolysis?
when will its activity be activated?
aneaerobic or aerobic?
A
Phosphofructokinase-1
low ATP
anaerobic
2
Q
6 mo old kid presents w hyperplastic gums, clouded corneas and resticted joint movements,
diagnosis?
wt is defective?
A
I-cell disease
phophorylation of mannose
3
Q
pt presents w painfull muscle cramps and myoglobinuria with exercise,
Diagnosis?
deficient enzyme?
A
McArdle disease
glycogen phosphorylase (myophosphorylase)
4
Q
3 complications of kartagener syndrome?
A
sinus problems
dextrocardia
ear problems
5
Q
most common mutation CF?
A
abnormal post translation processing due to delta508 mutation
6
Q
3 derivatives of arginine?
A
Creatinine
Urea
Nitric Oxide