Chapter 11

Instructions

Choose your answers from a-d by clicking the radio button next to each choice and then press 'Submit' to get your score.

A high blood ammonia level occurs in:

a) galactosaemia.

b) Hurler's syndrome.

c) ornithine transcarbamylase (OTC) deficiency.

d) phenylketonuria.

Question 2

The risk of abnormality in the child of a mother with untreated phenylketonuria is:

a) 1%

b) 10%

c) 25%

d) Almost 100%

Question 3

Familial hypercholesterolaemia is caused by mutations in the gene which encodes what?

a) High density lipoprotein

b) HMG-CoA reductase

c) Low density lipoprotein

d) Low density lipoprotein receptor

Question 4

Tay-Sachs disease is caused by deficiency of _________________?

a) Alpha-L-iduronidase

b) Glucose-6-phosphatase

c) Hexosaminidase A

d) Homogentisic acid oxidase

Question 5

Which of the following conditions is a peroxisomal disorder?

a) Acute intermittent porphyria

b) Maple syrup urine disease

c) Medium chain acyl-CoA dehydrogenase deficiency

d) Zellweger syndrome