Name: Nizar Ismail

CID: 00469147

Theme: Lipoprotein Metabolism

 

OPTION LIST

 

A

Short-chain-CoA dehydrogenase (SCAD) deficiency

I

Long-chain-CoA dehydrogenase (LCAD) deficiency

B

Medium-chain-CoA dehydrogenase (MCAD) deficiency

J

Very long-chain-CoA dehydrogenase (MCAD) deficiency

C

Familial hypertriglyceridaemia I

K

Diabetes mellitus

D

Familial hypertriglyceridaemia IV

L

Hypothyroidism

E

Familial hypertriglyceridaemia V

M

Gout

F

Familial hypercholesterolaemia II

N

Tangier disease

G

Polygenic hypercholesterolaemia

O

Hypo-a-lipoproteinaemia

H

Familial hyper-a-lipoproteinaemia

P

Ab-lipoproteinaemia

 

 

For each scenario below, choose the most appropriate answer from the list above. Each option may be used once, more than once or not at all.

 

1.   The most common cause in the Western world for secondary hyperlipidaemia.

 

2.   There is high-density lipoprotein (HDL) deficiency as a result of ABC AI mutations.

 

3.   This inborn error of metabolism is tested for universally, across the United Kingdom a few days after birth.

 

4.   A form of inherited disease that causes high levels of VLDL and chylomicrons in the plasma. It is sometimes due to apoA V deficiency.

 

5.   Autosomal dominant mutations, usually of the LDL-receptor, and is associated with tendon xanthoma, arcus senilis cornea and xanthelasma palpebarum.

 

  

ANSWERS

 

1. K

2. N

3. B

4. E

5. J