Chempath 5: Metabolic disorders and screening 1 Flashcards Preview

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Flashcards in Chempath 5: Metabolic disorders and screening 1 Deck (6)
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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)

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