Biochemistry

Question 1

Essential amino acids

1. Glucogenic
2. Gugoneic/ketogenic
3. Ketogenic

Answer 1

1. Met, Val, Arg, His
2. Ile, Phe, Trp, Thr, Tyr
3. Leu, Lys

Question 2

Normal adult Hb

1. HbA
2. HbA2
3. HbF

Answer 2

1. A2B2 - 97%
2. A2D2 - 23%
3. A2G2 - 1%

Question 3

Mutation in sickle cell disease

Answer 3

Acidic/neg glutamine at position 6 replaced with neutral valine.
will migrate more slowly to (+) electrode during electrophoresis

Question 4

EDS vs. Marfan’s

Answer 4

1. EDS: mutation in collagen (usually type III, in arteries) –> stretchy skin, easy bruising, vascular problems (e.g. berry aneurysms)
2. Marfan’s: defect in fibrillin causing problems with elastin.

Question 4

Benzoate

Answer 4

Treatment for hyperammonemia. Binds amino acid and leads to excretion, decrease ammonia levels

Question 5

Phenylbutyrate

Answer 5

Treatment for hyperammonemia. Binds amino acid and leads to excretion, decrease ammonia levels

Question 6

Lactulose

Answer 6

Osmotic laxative. Acidifies urine and traps NH4+ for excretion.
Treatment for hepatic encephalopathy, constipation