Management of urea cycle defects in a developing country

Abstract

Urea cycle disorders (UCDs) are amongst the commonest disorders detected in critically ill newborns. True incidence of these disorders in developing countries like India may not be known, however they are expected to be very common owing to the high rate of consanguinity in these countries. In this review article we discuss the problems and hardships faced by treating clinicians in a developing country. We present an overview of the strategies to be followed by clinicians in a developing country for treatment and management of such disorders. Management of disorders like UCDs in a developing country has many complexities and limitations. The outcome in these disorders depends upon many factors like availability of basic investigations, availability of emergency drugs, availability of special diets and their cost-effectiveness. Alternative methods for ammonia detoxification like peritoneal dialysis and hemodialysis may or may not be available at all the centers managing critically ill newborns with UCDs, which may in turn affect the outcome in these children. Liver transplants are rarely available. Thus increasing the awareness about these disorders and educating the primary physicians in treatment and management of such disorders become an essential part in the management of these disorders. Emergency protocols to be followed during treatment have been described in this review.

Keywords

Urea cycle disorders - sodium benzoate - sodium phenylbutyrate - citrullinemia