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.
-Based upon knowledge of enzymes and metabolic processes,which of the following outcomes should the parents expect if the deficiency is not treated?

Question

Quizplus · Accepted Answer

Biotinidase deficiency is an inherited disorder that affects the body's ability to recycle the vitamin biotin. If left untreated, it can lead to permanent damage to organ systems such as the nervous system, skin, and immune system, and can potentially result in death. Prompt treatment with biotin supplementation can prevent these severe consequences.

A Newborn Infant Screening Yields a Positive Result for Biotinidase