GN 1.3.2

Question 1

What does a newborn screen look for?

Answer 1

Hallmark metabolites for potential diseases

Question 2

What is IVA?

Answer 2

Isovaleric Adicuria which is a defect in the Isovaleryl-CoA dehydrogenase.

Question 3

What is the method used to analyze the newborn screens?

Answer 3

Tandem mass spec

Question 4

What is PKU?

Answer 4

Phenylketonuria is a recessive condition resulting from recessive mutations in the phenylalanine hydroxylase gene. Have high levels of phenylalanine in the blood.

Question 5

What is MCADD?

Answer 5

Medium-chain acyl dehydrogenase deficiency characterized by increased levels of C8

Question 6

What are the criteria for a good screening test?

Answer 6

SUE IS SAFE

Severity of the disease is high
Understood history of disease
Effective treatment of disease is available
Incidence of disease should be higher to warrant test
Sensitivity should be high
Specificity should be high
At-risk population should all have access
Follow-up of positive results
Economic

Question 7

What is the main method of obtaining newborn samples?

Answer 7

A heel prick is used to collect drops of blood from a newborn

Question 8

What is tandem mass spec?

Answer 8

Measurement of mass to charge ratio. First is used to determine precursor mass then they are broken apart to determine the fragment mass to charge.

Question 9

What is the cause of Krabbe’s disease?

Answer 9

Diffuse leukodystrophy linked to galactcerebridase deficiency. Lysomal storage disease.

Question 10

What is classical galactosemia?

Answer 10

A defect in galactose-1-phosphate uridyl transferase