All issues > Volume 53(4); 2010

Case Report

Korean J Pediatr. 2010;53(4):598-602. Published online April 15, 2010.

A case of severe transient hyperammonemia in a newborn

Min Woo MW Hwang¹, Seung Taek ST Yu¹, Yeon Kyun YK Oh¹

¹Department of Pediatrics, Wonkwang University School of Medicine, Iksan, Korea

Correspondence Yeon Kyun YK Oh ,Email: oyk5412@wonkwang.ac.kr

Abstract

Transient hyperammonemia in a newborn is an overwhelming disease manifested by hyperammonemic coma. The majority of affected newborns are premature and have mild respiratory syndrome. The diagnosis may be difficult to determine. This metabolic disorder is primarily characterized by severe hyperammonemia in the postnatal period, coma, absence of abnormal organic aciduria and normal activity of the enzymes of the urea cycle. Hyperammonemic coma may develop within 2-3 days of life, although its etiology is unknown. Laboratory studies reveal marked hyperammonemia (>4,000 µmol/ L). The degree of neurologic impairment and developmental delay in this disorder depends on the duration of hyperammonemic coma. Moreover, the infant may succumb to the disease if treatment is not started immediately and continued vigorously. Hyperammonemic coma as a medical emergency requires dialysis therapy. Here, we report a case of severe transient hyperammonemia in a preterm infant (35 week of gestation) presented with respiratory distress, seizure, and deep coma within 48 hours and required ventilatory assistance and marked elevated plasma ammonia levels. He survived with aggressive therapy including peritoneal dialysis, and was followed 2 years later without sequelae.

Keywords :Transient hyperammonemia, Hyperammonemic coma, Newborn