Pathology EMQ template.

Name: Keerthini Muthuswamy

Theme: Metabolic disorders and screening

OPTION LIST

A	Peroxisomal disease	I	Urea cycle defects
B	Maple syrup urine disease	J	Barth Syndrome
C	Cystic Fibrosis	K	Homocystinuria
D	Medium chain acetyl-CoA dehydrogenase deficiency	L	Glutaric aciduria type 1
E	Glucoronyltransferase	M	Phenylalanine
F	Lysosomal storage diseases	N	Kearns-Sayre disorder
G	Phenylketonuria	O	Congenital hypothyroidism
H	Tandem mass spectroscopy	P	MELAS

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. Arises due to a deficiency in phenylalanine hydroxylase.

2. With this fatty acid oxidation disorder, infants become hypoglycaemic between meals due to their inability to convert fats into fatty acids.

3. Characterised by encephalopathy, respiratory alkalosis, hyperammonaemia, irreversible neurological damage and vomiting without diarrhoea.

4. In neonates, these manifest with muscular hypotonia, seizures, hepatic dysfunction, mixed hyperbilirubinaemia and dysmorphia.

5. A cause of stillbirth found exclusively in males, this disorder is associated with abnormal cardiolipin.

ANSWERS

1. G

2. D

3. I

4. F

5. J