Abstract
Abetalipoproteinemia is a rare disease that occurs predominantly in the first decade of life, having as main manifestations, steatorrhea, alteration in development and considerably decreased lipid plasma levels. However. this clinical presentation is often confusing, since there is a group of genetic disorders that lead to poor lipid absorption, requiring the need to make a comprehensive differential diagnosis from a clinical, biochemical and molecular point of view. This article will provide an updated review on Abetalipoproteinemia. focusing on its pathophysiology. systemic manifestations, diagnosis and general approach. allowing easy access to an integral knowledge. The search strategy and study selection methods were based on elements of the prisma statement and Cochrane guidelines, using search terms such as "Abetalipoproteinemia" and "Biochemistry". in addition to synonyms, which were combined with "and" and "or" operators, in the PubMed, Science Direct, Clinical Key and Ebsco databases. It is necessary to highlight that there is not much specific literature on this condition. which would support the fact that it is an undervalued and little-known entity, it is essential to carry out more research on the subject. taking into account that if a diagnosis is not established proper management. the complications are many and severe.