Second Subject: Specimen Collection
Description
An inherited condition that is caused by the body’s inability to metabolize Phenylalanine is called:
a. packed cell volume (PCV)
b. pelvic inflammatory disease (PID)
c. Phenylketonuria (PKU)
d. Pleuropneumonialike Organisms (PPLO)
- Newborn screening may detect a variety of genetic conditions, infections, and metabolic diseases using specimens collected on filter paper circles included on newborn screening cards. Phenylketonuria (PKU) is one of the most commonly ordered tests on newborns and screens for a genetic defect preventing the enzymatic breakdown of phenylalanine, which may ultimately accumulate in toxic levels leading to brain damage and mental retardation.
