A Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa Therapy

Joseph J. Shen, Jessica L. Davis, Xinying Hong, Fred H. Laningham, Michael H. Gelb, Grace E. Kim

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)726-730
Number of pages5
JournalJournal of pediatric gastroenterology and nutrition
Volume71
Issue number6
DOIs
StatePublished - Dec 1 2020

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Gastroenterology

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