Carrier Rate of Citrullinemia, Type I in Individual Ethnic Groups Using an Expanded Carrier Test

Abstract

To identify population-specific carrier frequencies for Citrullinemia Type 1. Better knowledge of population specific carrier frequencies improves carrier testing and genetic counseling; however, prior reports have not captured data in specific ethnic groups. Identifying a fetus at risk for CTLN1 could allow prenatal planning by arranging for appropriate post-partum care to mitigate or prevent long lasting neurological damage with prompt use of metabolic therapy.