Paediatric Biochemsitry

Question 1

3 common features of IMD

Answer 1

Acidosis
CNS dysfunction
Failure to thrive

Question 2

repayment strategies for IMD (3)

Answer 2

1. Restrict substrate intake
2. Supply of missing product
3. Cofactor supplementation

Question 3

Treatment strategies for IMD (6)

Answer 3

1. Restrict substrate intake
2. Supply of missing product
3. Co-factor supplementation
4. Increased excretion of toxic substances
5. Enzyme replacement therapy
6. Replacing the mutant gene by organ transplantation or gene therapy

Question 4

PKU

Answer 4

Complete/near deficiency of PAH enzyme activity
Increased phenylalanine
Autosomal recessive disease

Question 5

MCADD

Answer 5

Medium chain acyl-CoA dehydrogenase deficiency
Disorders of fatty acid oxidation
Autosomal recessive

Question 6

Galactosaemia

Answer 6

Deficiency of enzyme galactose-1-phosphate uridyltransferase
Autosomal recessive inheritance

Question 7

When is the newborn screen typically taken?

Answer 7

Day 5

Question 8

Newborn screening programme in NI screens for (3)

Answer 8

PKU
MCADDD
HCU