Pathology EMQ template.

Name: Melanie Kwan

Theme: Metabolic Disorders and Screening

 

OPTION LIST

 

A	Phenylketonuria (PKU)	I	Homocystinuria
B	Congenital Hypothyroidism	J	Citrullinaemia type II
C	Cystic Fibrosis	K	Glutaric aciduria type I
D	Sickle Cell Disease	L	Medium Chain AcylCoA dehydrogenase (MCADD)
E	Isovaleric acidaemia	M
F	Maple syrup urine disease	N
G	Barth syndrome	O
H	Arginase deficiency	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.  Characterised by increased viscous secretions leading to recurrent lung infections, steatorrhoea and liver cirrhosis.

 

 

2.  A fatty acid oxidation disorder that presents in early childhood. Characterised by hypoglycaemia.

 

3. An amino acid disorder associated with lens dislocation, mental retardation and thromboembolism.

 

 

4. Autosomal recessive condition caused by an inability to properly break down phenylalanine.

 

5. A disorder which disrupts amino acid metabolism. Affected infants’ urine has a distinctive sweet odour.

 

ANSWERS

1. C

2. L

3. I

4. A

5. F