Open AccessA Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa Therapy
Author(s) -
Shen Joseph J.,
Davis Jessica L.,
Hong Xinying,
Laningham Fred H.,
Gelb Michael H.,
Kim Grace E.
Publication year - 2020
Publication title -
journal of pediatric gastroenterology and nutrition
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.206
H-Index - 131
eISSN - 1536-4801
pISSN - 0277-2116
DOI - 10.1097/mpg.0000000000002870
Subject(s) - medicine , enzyme replacement therapy , dyslipidemia , lipase , enzyme , cholesterol , endocrinology , gastroenterology , disease , biochemistry , biology
Lysosomal acid lipase (LAL) deficiency, or cholesterol ester storage disease, is a disorder affecting the breakdown of cholesterol esters and triglycerides within lysosomes. Clinical findings include hepatomegaly, hepatic dysfunction, and dyslipidemia with a wide range of phenotypic variability and age of onset. The available clinical and molecular information of the patient presented herein was consistent with a diagnosis of LAL deficiency, but her LAL activity assay repeatedly showed normal or borderline low results. Her response to enzyme replacement therapy and demonstrable deficiency on a newer specific enzymatic assay ultimately confirmed her diagnosis of LAL deficiency.