DELAYED NEUROLOGIC MANIFESTATIONS OF ORNI THINE TRANSCARBAMYLASE (OCT)

Ornithine transcarbamylase (OCT) deficiency is an X-linked inborn erro r of metabolisme and the most common inherited urea cycle defect. Homo zygous males develop hyperammonienic encephalopathy and usually die in the neonatal period. Delayed manifestations have been reported in a f ew male and female patients with heterozygous OCT deficiency. Most of these manifestations have been intermittent and non specific, such as loss of appetite, an aversion to high protein foods, headache, vomitin g, behavioral disorders, irritability, and transient motor deficits. T he diagnosis rests on demonstration of hyperammonemia, increased urina ry excretion of erotic acid, and decreased OCT activity in a biopsy of the liver or jejunum.