Neonatal urea cycle defects are usually misdiagnosed because of a failure to assess which of the following?

Question

Quizplus · Accepted Answer

Neonatal urea cycle defects often lead to hyperammonemia, so measuring the level of ammonia in the blood is crucial for diagnosis.  Seemingly normal full-term infants suffering from urea cycle defects will usually become lethargic and need stimulation to feed within 24-72 hours after birth. When presented in the emergency many will be comatose. One obvious outward clinical sign will be a bulging fontanel due to the ammonia-induced encephalopathy. If a correct diagnosis of hyperammonemia is not made in a timely manner these infants will die.

Neonatal Urea Cycle Defects Are Usually Misdiagnosed Because of a Failure