Neonatal Citrullinaemia of Consanguineous Parents: An Experience from Sri Lanka

Abstract

Introduction Incidence of all urea cycle disorders (UCD) has been reported as 1:35 000 and out of that the incidence of citrullinemia is 1:250 000 births in the United States. [Summer M. L., et al. Molecular genetics and metabolism, 110 (1–2), 179–180]. Worldwide incidence of citrullinemia type 1 ranges between 1:44 300 to 1:200 000[Wasim, M., et al. Biochemical Genetics, 56 (1–2): 7–21]. The incidence or prevalence of UCD in Sri Lanka is not known. Citrullinemia is a UCD caused by the deficiency of argininosuccinic acid synthetase (ASS), an enzyme that catalyzes the third reaction of the urea cycle [Rizwani I, et al. Elsevier; 2012: 447–453]. There are three types of enzyme abnormalities causing citrullinaemia. The classic neonatal form is type I and type II is a milder form which presents later in life. Although even after a thorough literature search we were unable to find published data on citrullinaemia locally, there would be diagnosed patients. Hence, we present two case scenarios on neonatal citrullinemia focusing on the clinical presentation, diagnosis, genetic testing and outcome in Sri Lanka.