ABSTRACT
Urea cycle disorders are a group of inborn error of metabolism, characterized by hyperammonemia, metabolic alkalosis and clinical features of encephalopathy. These are among the commonest types of inborn errors of metabolism with a frequency of 1 in 8,000 to 1 in 30,000 in different population. This encompasses 5 major disorders, corresponding with deficiency of each step in the urea cycle, namely ornithine transcarbamoylase (OTC) deficiency, argininosuccinate lyase (ASL) deficiency, carbamoyl phosphate synthetase (CPS) deficiency, citrullinemia and argininemia. The most important clinical presentation is neurological abnormalities. The severity of UCD is correlated to extent of hyperammonemia. Early diagnosis and treatment are essential for successful patient outcome. Various modalities of treatment have been recommended; namely, treatment aimed at reducing ammonia level, including drugs like sodium benzoate and sodium phenyl butyrate, neuroprotective strategies, low protein diet, liver transplantation and hepatocyte transplantation. Molecular diagnosis is important to identify the pathogenesis of these disorders as well as it helps in prognosis. This review intends to summarize the important aspects of molecular diagnostic studies on urea cycle disorders.