Endocrine Abstracts

Introduction: Primary hypobetalipoproteinemia corresponds to a series of congenital disorders that have a variable incidence from 3.2% to less than 1 in 1 million, depending on the type of genetic mutation. The diseases that comprise it occur due to different types of mutations in genes that will encode important proteins at different stages of lipid metabolism. Individuals with determinant mutations of severe phenotypes, such as Bassen-Kornzweig syndrome, as known as Abetalip...