A Neonate With Hyperammonemia

Questions

1. What are this patient's most striking clinical and laboratory findings?

2. How do you explain these findings?

3. What additional laboratory testing should be performed on this neonate and why?

4. What is the patient's most likely diagnosis?

5. What is the biochemical and pathophysiologic basis of this disease?

6. What is the genetic basis of this disease?

7. How do patients with this disease usually present?

8. What is the appropriate management for patients with this disease?

Lab Med. 2005;36(5):292-295. © 2005 American Society for Clinical Pathology

Cite this: A Neonate With Hyperammonemia - Medscape - May 01, 2005.