Your Name: Simon Gill

Theme: ENZYMOLOGY

 

OPTION LIST

 

A

Amino acids (urine and plasma)

I

Urine sugar chromatography

B

Galactose-1-phosphate uridyl transferase

J

Very long chain fatty acids

C

Glucose and lactate

K

 

D

Medium chain acyl CoA dehydrogenase

L

 

E

Plasma ammonia

M

 

F

Plasma lactate

N

 

G

Transferrin glycoforms

O

 

H

Urine organic acids

P

 

 

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 2-month Canadian neonate presents with failure to thrive, jaundice and sepsis. You are screening for metabolic disorders, what 1st line test would you recommend?

 

 

2. A male infant presents with failure to thrive, neurological signs (poor coordination & tremor) and tachypnea. From our metabolic disorders screen, which 1st line test is likely to be abnormal?

 

 

3. A neonate has seizures, conjugated hyperbilirubinaemia and the 3rd year med student’s clinical observation is that “he looks weird!” From our metabolic disorders screen, which 1st line test is likely to be abnormal?

 

 

4. A post mortem diagnosis of an inborn error of metabolism is investigated in a case of “sudden infant death”. What deficiency is the most likely cause?

 

 

5. A neonate with a history of feeding difficulties presents with jaundice, cataracts and sepsis. What deficiency is the most likely cause?

 

 

ANSWERS

1. A

2. E

3. J

4. D

5.