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Article

Infant case of lysosomal acid lipase deficiency: Wolman's disease.

BMJ case reports - 15 May 2014

Sadhukhan Meghmala, Saha Amit, Vara Roshni, Bhaduri Bim

Abstract excerpt

Lysosomal acid lipase (LAL) deficiency is a rare autosomal recessive disorder which causes two distinct clinical phenotypes: Wolman's disease and cholesterol ester storage disease. LAL hydrolyses LDL-derived triglycerides and cholesterol esters to glycerol or cholesterol and free fatty acids. Its deficiency leads to accumulation of intracellular triglycerides and/or cholesterol esters. In early onset LAL...

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Identifiers

PMID: 24832708
DOI: 10.1136/bcr-2013-202652
PMCID: PMC4024536

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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