Neonatal Nurse Practitioner Practice Exam

When should inborn errors of metabolism be considered in an infant?

1. When presenting with alkalosis

2. When experiencing hyperglycemia

3. When experiencing seizures

4. When showing jaundice

The correct answer is: When experiencing seizures

Inborn errors of metabolism are genetic conditions resulting in enzyme deficiencies that can lead to the accumulation of toxic substances or the inability to process essential nutrients properly. Seizures in an infant can be a critical sign that warrants consideration of these metabolic disorders. Newborns presenting with seizures may be suffering from a range of underlying issues, including inborn errors of metabolism such as urea cycle disorders, phenylketonuria (PKU), or organic acidemias. These conditions can lead to toxic metabolic byproducts accumulating in the bloodstream, which can result in neurological symptoms, including seizures. Timely identification is crucial, as these metabolic disturbances can lead to significant morbidity or mortality if not addressed promptly. While alkalosis, hyperglycemia, and jaundice can all indicate various medical conditions in infants, they are not as directly indicative of inborn errors of metabolism as seizures are. For example, hyperglycemia might suggest issues related to insulin or stress but does not specifically point to a metabolic disorder. Similarly, jaundice, while it can arise from metabolic issues, has a broader range of causes, including physiological jaundice or biliary atresia, and is not exclusive to metabolic errors. Alkalosis can occur due to respiratory or metabolic processes