Pathology EMQ template.

Name: Morgan, Lowri

Candidate number:

Theme: Metabolic Disorders and Screening

OPTION LIST

A	Albinism	I	Hurler’s Syndrome
B	Beckwith Syndrome	J	Kearns-Sayre Syndrome
C	CDG type 1a	K	Phenylketonuria
D	Cerebrohepatorenal Syndrome	L	Reye’s Syndrome
E	Fanconi Syndrome	M
F	Galactosaemia	N
G	Gaucher’s disease	O
H	Hunter’s syndrome	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. This condition is closely associated with Aspirin Therapy.

2. Many children with this amino-acid transport defect (causing abnormally high plasma amino acid levels), are fair-haired and blue-eyed.

3. A mucopolysaccharidosis that has autosomal recessive inheritance.

4. A mucopolysaccharidosis that has X-linked inheritance.

5. Craniofacial abnormalities and an absence of peroxisomes in the liver and kidneys are symptoms of this condition.

ANSWERS

1. L

2. K

3. I

4. H

5. D