Hyperammonemia and UCD Case Summaries

Click below to review case summaries of urea cycle disorders. In some of the cases, early clues may have been overlooked. Use these case summaries to help recognize and diagnose hyperammonemia.

Hyperammonemia and Late-Onset UCDs - Case Summaries

Post-surgical adult trauma patient
(self-selected vegetarian)

Adult patient
(protein avoidance) receiving highdose IV steroids

Post-partum
adult female with uncharacteristic behavior

Adult post-bariatric surgery patient with rapid weight loss

Undiagnosed adult female organ donor

Hyperammonemia and Neonatal UCDs - Case Summaries

Full-term neonate with symptoms of hyperammonemia starting on day 2

Full-term neonate with symptoms of hyperammonemia starting on day 3

Act quickly. Check Ammonia. Call a Metabolic Geneticist