Name: Xin-Ying Kowa

Theme: Metabolic disorders and screening

 

OPTION LIST

 

A

HMG co-A reductase

I

Aspartate transaminase

B

ALA synthase

J

Alanine transaminase

C

HMB synthase

K

Ferrochelatase

D

Neutrophil elastase

L

Cyclin-dependent kinase

E

Myeloperoxidase 

M

Carbonic anhydrase

F

Lactoferrin

N

Glucuronyltransferase

G

Alkaline phosphatase

O

ATP synthase

H

Uroporphyrinogen decarboxylase  

P

Protoporphyrinogen oxidase

 

 

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. A 40-year old Caucasian woman fasted 12 hours for her upcoming laparoscopic procedure. A few hours post-op, she is unwell with acute abdominal pain, ECG changes and hallucinations. Samples are sent off to the laboratory. Levels of which of the following is raised?

 

 

2. A 67-year old smoker is found to have the SZ polymorphism of a protease inhibitor gene, leading to lung pathology. Catalytic activity of which substance is raised?

 

 

3. A known lupus sufferer presents to her dermatologist with blisters. After her urine and stool samples were analysed, the relevant referrals were made. She was discharged after several phlebotomy sessions and supportive treatment were given. What enzyme is she lacking?

 

 

4. Bilirubin is conjugated in the liver via action of this enzyme.

 

 

5. A 35-year old lady presents with non-specific symptoms and muscle weakness only. She informs the admitting physician of her family history of ‘liver problems’ and mutters about something to do with ‘red blood cells’. She denies having any skin changes. She suffers from a deficiency of which of the following? 

 

 

 

ANSWERS

1.

2.

3.

4.

5.