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
