Your friend's baby, Kayla, has been diagnosed with a disorder with which she is lacking an important liver enzyme. This enzyme has the potential to delay Kayla's cognitive development. What is this disorder?

Question

Quizplus · Accepted Answer

Phenylketonuria (PKU) is a disorder where an individual lacks the enzyme phenylalanine hydroxylase, which is responsible for breaking down the amino acid phenylalanine. Without this enzyme, phenylalanine builds up in the body and can cause brain damage, leading to cognitive delay. It is usually detected through newborn screening programs. The other options, Huntington's disease, Hodgkin's lymphoma, and Parkinson's disease, are conditions that do not involve a lack of liver enzyme and do not typically result in cognitive delay in infants.

Your Friend's Baby, Kayla, Has Been Diagnosed with a Disorder