A 3-day-old newborn female with a deficiency of mitochondrial carbamoyl phosphate synthetase I develops seizures and lapses into a coma. Which of the following changes in blood concentration is the most likely cause?

Question

Quizplus · Accepted Answer

A deficiency in mitochondrial carbamoyl phosphate synthetase I leads to an inability to properly process ammonia in the urea cycle, resulting in hyperammonemia, which can cause neurological symptoms such as seizures and coma.  A deficiency in carbamoyl phosphate synthetase I is reflective of a urea cycle disorder. A common thread to most UCDs is hyperammonemia leading to ammonia intoxication.

A 3-Day-Old Newborn Female with a Deficiency of Mitochondrial Carbamoyl