Ontology highlight
ABSTRACT:
SUBMITTER: Sadhukhan M
PROVIDER: S-EPMC4024536 | biostudies-other | 2014 May
REPOSITORIES: biostudies-other
Sadhukhan Meghmala M Saha Amit A Vara Roshni R Bhaduri Bim B
BMJ case reports 20140515
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 deficiency, clinical manifestations start in the first few weeks of life with persistent vom ...[more]