Carbamoyl Phosphate Synthetase I Deficiency Is an Inherited Disorder Characterized

Carbamoyl phosphate synthetase I deficiency is an inherited disorder characterized by accumulation of ammonia in the blood.  The most severe form occurs in the first 24-72 hours following birth, after feeding begins and milk proteins start to be broken down in the liver.  If left untreated, affected neonates often die due to severe metabolic derangements; survivors often develop permanent neurologic injury.  The estimated incidence of carbamoyl phosphate synthetase I deficiency is about 1 in 800,000 newborns.  If a decision is made to test all newborns for this disease, then this initial test should be designed to have a high:

A) Cutoff value
B) Number of true negatives
C) Positive predictive value
D) Sensitivity
E) Specificity

Correct Answer:

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