Acute treatment of hyperammonemia by continuous renal replacement therapy in a newborn patient with ornithine transcarbamylase deficiency

Abstract

Ornithine transcarbamylase (OTC) deficiency is well known as the most common inherited disorder of the urea cycle, and 1 of the most common causes of hyperammonemia in newborns. We experienced a case of a 3-day-old boy with OTC deficiency who appeared healthy in the first 2 days of life but developed lethargy and seizure soon afterwards. His serum ammonia level was measured as >1700 µg/dL (range, 0 to 45 µg/dL). Continuous renal replacement therapy (CRRT) in the mode of continuous venovenous hemodiafiltration was immediately applied to correct the raised ammonia level. No seizure occurred after the elevated ammonia level was reduced. Therefore, CRRT should be included as 1 of the treatment modalities for newborns with inborn errors of metabolism, especially hyperammonemia. Here, we report 1 case of successful treatment of hyperammonemia by CRRT in a neonate with OTC deficiency.

Keywords: Continuous renal replacement therapy; Hyperammonemia; Infant; Newborn; Ornithine transcarbamylase deficiency.

Fig. 1

A genetic study of ornithine transcarbamylase deficiency showed p.Arg 141 Gln (c.422 G>A).

Fig. 2

After 24 hours of dialysis, the serum ammonia level decreased to 422 µg/dL, and then finally to 200 µg/dL.