Pathology EMQ template.

Name: MALIK, SALWA

Candidate number: 00391048

Theme: Metabolic Disorders and Screening

OPTION LIST

A	Ammonia, urine organic acids and plasma amino acids	I	Urine Amino Acids
B	Very Long Chain Fatty Acid profile & bile acids	J	Plasma Ammonia
C	Lactate, muscle biopsy and mitochondrial DNA analysis	K
D	Lactate, muscle biopsy and CSF Lactate	L
E	Transferrin Glycoforms	M
F	Phenylalanine hydroxylase	N
G	Conjugated Bilirubin & Red Cell Gal-1-PUT	O
H	Blood glucose and Lactate	P

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

1. A neonate with fat pads and nipple retraction and abnormal subcutaneous adipose tissue distribution

2. An infant presenting with retinopathy, deafness, hepatic dysfunction and a large fontanel

3. A neonate presenting with vomiting, diarrhoea, jaundice, hypoglycaemia, hepatomegaly and signs of sepsis

4. Infant presenting with multisystemic problems and stroke-like episodes

5. A neonate who is presenting with lethargy, poor feeding, myoclonic jerks and an unusual odour

ANSWERS

1. E

2. B

3. G

4. D

5. A