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

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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

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3
Q

pt presents w painfull muscle cramps and myoglobinuria with exercise,
Diagnosis?
deficient enzyme?

A

McArdle disease

glycogen phosphorylase (myophosphorylase)

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4
Q

3 complications of kartagener syndrome?

A

sinus problems
dextrocardia
ear problems

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5
Q

most common mutation CF?

A

abnormal post translation processing due to delta508 mutation

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6
Q

3 derivatives of arginine?

A

Creatinine
Urea
Nitric Oxide

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