A newborn infant screening yields a positive result for biotinidase deficiency. The RN prepares education for the patient's parents regarding the role of enzymes in metabolism and this enzyme deficiency disorder.
-Inborn errors of metabolism ________.

Question

Quizplus · Accepted Answer

Inborn errors of metabolism may not become evident until adulthood, such as in cases of galactosemia or Wilson's disease. Option A is incorrect because inborn errors of metabolism are caused by genetic deficits in enzymes or transporters, not infectious agents. Option B is incorrect because signs and symptoms of these disorders can vary widely and are often nonspecific, making diagnosis difficult. Option C is also incorrect because many inborn errors of metabolism can be diagnosed through DNA testing or enzyme assays.

A Newborn Infant Screening Yields a Positive Result for Biotinidase