Think hyperammonaemia: the importance of early clinical management in urea cycle disorders.

Urea cycle disorders (UCDs) are one of the more common groups of inherited metabolic disorders (IMDs). The urea cycle carried out by cells of the liver, detoxifies ammonia into urea which the body then excretes in the urine. UCDs are genetically inherited deficiencies in the enzymes of the urea cycle. UCDs cause hyperammonaemia, a metabolic emergency which requires prompt and meticulous management to prevent significant neurological harm and death. Timely investigation and treatment alongside liaison with the specialist metabolic centre are essential for improved patient outcomes and diagnosis. This review highlights the importance of early recognition of UCDs and the initiation of clinical management. Three case presentations of UCDs are discussed including argininosuccinate lyase (ASL) deficiency, ornithine transcarbamylase (OTC) deficiency and carbamoylaspartate synthetase 1 (CPS1) deficiency. [ABSTRACT FROM AUTHOR]