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

Patient's Treatment and Course

The patient underwent immediate intubation and peritoneal dialysis to rapidly decrease his serum ammonia concentration. In addition, intravenous glucose was administered at high infusion rates. Following diagnosis, the patient was started on carnitine (25 mg/kg every 6 hours) and glycine (45 mg/kg every 4 hours). The patient responded by rapid reduction in his ammonia levels (Figure 3). When he awakened and was able to feed, he was placed on a protein restricted diet. A combination of Enfamil and Ivalex was used to provide 3.7 g/kg/day of total protein and 150 g/kcal/day. Three days later, a follow-up urine organic acid analysis showed no 3-hydroxyisovaleric acid and a larger amount of isovalerylglycine (Figure 4). Clinically, the patient appeared to do well, but will need life-long dietary management.

The markedly elevated levels of ammonia in the patient's serum responded rapidly to therapy with intravenous glucose, carnitine, and glycine.

Three days after therapy, gas chromatography/mass spectrometry results from the patient's urine specimen showed only a large amount of isovalerylglycine (peak # 2). Peak #1 represents the internal standard (2-phenylbutyric acid).


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