ABSTRACT
Citrullinemia usually presents as an overwhelming neonatal illness. Following a brief hiatus in which the newborn appears normal, anorexia, vomiting and lethargy develop, and these symptoms are followed rapidly by progression to deep coma (Figures 31.2-31.7). Apnea ensues, and death is inevitable unless the infant is intubated and provided with mechanical ventilation. Seizures often occur, and there are abnormalities of the electroencephalogram (EEG). The infant may be hypertonic, and there may be decerebrate posturing. The neurologic abnormality is progressive to flaccidity and dilated, fixed pupils. The infant is unresponsive even to deep pain. The liver may be enlarged, and serum levels of transminases are often elevated.
