:star: Urea Cycle defects:
Inherited deficiencies of 1/6 Ez of urea cycle or 1/3 transporters, essential for providing ornithine, aspartate, arginine for cycle
Typical presentation of severe UCD - neonate, well for 24-48 hrs, lethargy, hypothermia and apnoea
Classic triad: encephalopathy, respiratory alkalosis, hyperammonaemia