Your Name: Oli O’Donovan

Theme: Neonatal screening

OPTION LIST

A	Biotinidase deficiency	I	PKU
B	Congenital hypothyroidism	J	Sickle cell
C	Congenital adrenal hyperplasia	K	Urea cycle disorders
D	Cystic Fibrosis	L
E	Galactosaemia	M
F	Homocystinuria	N
G	MCAD	O
H	Organic acidurias	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. An abnormality tested for by the Guthrie blood spot test

2. An abnormaility that is tested for using electrophoresis

3. A fatty acid oxidation defect

4. An abnormality that is indicated by a high level of TSH

5. An abnormality that may result in androgenisation and pigmentation among other signs and symptoms

ANSWERS

1. I

2. J

3. G

4. B

5. C