A Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa Therapy. Issue 6 (December 2020)

• Record Type: Journal Article
• Authors: Shen, Joseph J.; Davis, Jessica L.; Hong, Xinying; Laningham, Fred H.; Gelb, Michael H.; Kim, Grace E.
• Is Part Of: Journal of pediatric gastroenterology and nutrition. Volume 71:Issue 6(2020)
• Publication Date: 2020-12
• Subjects: cholesterol ester storage disease -- lysosomal acid lipase deficiency -- LIPA gene -- pathogenic variant -- sebelipase alfa -- variant of uncertain significance; Children -- Nutrition -- Periodicals; Pediatric gastroenterology -- Periodicals; Infants -- Nutrition -- Periodicals; Nutrition disorders in children -- Periodicals; Child Nutrition -- Periodicals; Digestive System -- growth & development -- Periodicals; Gastrointestinal Diseases -- Periodicals; Infant Nutrition -- Periodicals; Nutrition Disorders -- Periodicals; Child; 618.923
• DOI: 10.1097/MPG.0000000000002870
• Languages: English
• ISSNs: 0277-2116

Abstract

Abstract : ABSTRACT: 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.