A Neonate With Hyperammonemia

Dinesh Rakheja, MD; Michael B. Bober, MD, PhD; Susan L. Fisher, MT(ASCP); Patricia M. Jones, PhD


Lab Med. 2005;36(5):292-295. 

In This Article


  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?


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