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This document provides information about urea cycle disorders (UCDs), including the pathways of ammonia metabolism and urea cycle, features of hyperammonemia, diagnostic testing, and treatment approaches. It describes a case of a male term baby who presented with lethargy, poor feeding, grunting, and convulsions on day 2 of life. Based on elevated ammonia levels that were unresponsive to treatment and organic acid analysis, he was diagnosed with a UCD involving a defect in the argininosuccinate lyase enzyme

Author

monday125

Language

EN