Familial lecithin-cholesterol acyltransferase deficiency: If so rare, why so frequent in the state of Piaui, northeastern Brazil?

ABSTRACT: Lecithin-cholesterol acyltransferase (LCAT), an enzyme that participates in lipoprotein metabolism, plays an important role in cholesterol homeostasis. Mutations in the LCAT gene can cause two rare genetic disorders: familial LCAT deficiency (FLD), which is characterized by corneal opacities, normocytic anemia, dyslipidemia, and proteinuria progressing to chronic renal failure, and fish-eye disease (FED), which causes dyslipidemia and progressive corneal opacities. Herein, we report six suspected cases of FLD in the backlands of Piauí, located in northeast Brazil. A genetic diagnosis was performed in index cases. Among these, a further investigation was performed to identify new cases in the families. In addition, molecular analyses were performed to verify the levels of consanguini

SUBMITTER: de Serpa Brandao RMS 

PROVIDER: S-EPMC8856911 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature