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Article

Identification and metabolic profiling of patients with lysosomal acid lipase deficiency.

Journal of clinical lipidology - 1 Jan 2000

Pullinger Clive R, Stock Eveline Oestreicher, Movsesyan Irina, Malloy Mary J, Frost Philip H, Tripuraneni Radhika, Quinn Anthony G, Ishida Brian Y, Schaefer Ernst J, Asztalos Bela F, Kane John P

Abstract excerpt

BACKGROUND: Lysosomal acid lipase (LAL), encoded by the LIPA gene, catalyzes the intracellular hydrolysis of cholesteryl esters and triglycerides in hepatocytes and macrophages. LIPA defects cause accumulation of these lipids in lysosomes. LAL deficiency (LAL D) presents and progresses as a continuum with dyslipidemia, hepatomegaly, and liver fibrosis. OBJECTIVE: To improve the understanding of the genetic basis...

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Source

Identifiers

PMID: 26350820
DOI: 10.1016/j.jacl.2015.07.008

Genes

LIPA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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