Carbamoyl Phosphate Synthetase I Deficiency Is an Inherited Disorder Characterized

question 13

Multiple Choice

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

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Definitions:

Optic Nerve

The nerve that transmits visual information from the retina to the brain.

Fovea

A small depression in the retina of the eye where visual acuity is highest, due to the concentration of cone cells.

Iris

The colored part of the eye surrounding the pupil, responsible for controlling the amount of light reaching the retina.

Ganglion Cells

Neurons located in the retina that receive visual information from photoreceptors and transmit it to the brain.