LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred.

ABSTRACT:

Background

LCAT (lecithin-cholesterol acyltransferase) deficiency is characterized by two distinct phenotypes, familial LCAT deficiency (FLD) and Fish Eye disease (FED). This is the first systematic review evaluating the ethnic distribution of LCAT deficiency, with particular emphasis on Latin America and the discussion of three Mexican-Mestizo probands.

Methods

A systematic review was conducted following the PRISMA (Preferred Reporting Items for Systematic review and Meta-Analysis) Statement in Pubmed and SciELO. Articles which described subjects with LCAT deficiency syndromes and an assessment of the ethnic group to which the subject pertained, were included.

Results

The systematic review revealed 215 cases (154 FLD, 41 FED and 20 unclassified) pertaining to 33 ethn

SUBMITTER: Mehta R 

PROVIDER: S-EPMC8276382 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature