Chempath 5: Metabolic disorders and screening 1 Flashcards
1
Q
List the 9 diseases that are tested for in newborns with the Guthrie heel prick test ?
A
Congenital hypothyroidism Sickle cell disease Cystic fibrosis Maple syrup urine disease (MSUD) Phenylketonuria (PKU) Homocystinuria (HCU) Medium chain acyl-CoA dehydrogenase disease (MCADD) Isovalaeric acidaemia (IVA) Glutaric aciduria type 1 (GA1)
2
Q
How is MCADD managed ?
A
with MCAD enzyme deficient you can’t break down fats into ketones for metabolism meaning you rely solely on glucose.
- Never let the child become hypoglycaemic or they die.
- NG tube feeds at night
3
Q
Define specificity ?
A
The probability that someone without the disease will also test negative.
TN/(FP+TN)
4
Q
Define sensitivity ?
A
The probability that someone with the disease will correctly test positive
TP/(TP+FN)
5
Q
Define positive predictive value ?
A
The probability that someone who tests positive actually has the disease.
TP/(TP+FP)
6
Q
Define negative predictive value ?
A
The probability that someone who tests negative actually does not have the disease.
TN/(TN+FN)