Clinical characteristics of children with lysosomal acid lipase deficiency

Lysosomal acid lipase deficiency (LAL-D) is a rare hereditary disorder, caused by pathogenic variant in the LIPA gene. LAL-D is screened as a secondary disorder among other rare dyslipidemias exhibiting with hypercholesterolemia as part of the Slovenian universal familial hypercholesterolemia (FH) screening program. We present clinical and genetical data of 3 children with LAL-D, and data for prevalence estimation in Slovenia.溶酶体酸性脂肪酶缺乏症（lysosomal acid lipase deficiency, LAL-D）是一种罕见的遗传性疾病，由LIPA基因的致病变异引发。作为斯洛文尼亚全国性家族性高胆固醇血症（familial hypercholesterolemia, FH）筛查项目的组成部分，LAL-D被作为以高胆固醇血症为临床表现的其他罕见血脂异常的继发性疾病开展筛查。本研究报道了3例LAL-D患儿的临床及遗传学数据，同时提供了斯洛文尼亚境内该病的患病率估算相关数据。