Frequency of the Cholesteryl Ester Storage Disease Common Lipa E8sjm Mutation (C.894G>A) in Various Racial And Ethnic Groups

Abstract

These data indicate that CESD may be underdiagnosed in the general Caucasian and Hispanic populations, which is important since clinical trials of enzyme replacement therapy for LAL deficiency are currently being developed. Moreover, future studies on CESD prevalence in African and Asian populations may require full-gene LIPA sequencing to determine heterozygote frequencies, since c.894G>A is not common in these racial groups.