Ontology highlight
ABSTRACT:
SUBMITTER: Pastores GM
PROVIDER: S-EPMC7023879 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Pastores Gregory M GM Hughes Derralynn A DA
Drug design, development and therapy 20200211
Lysosomal acid lipase (LAL) deficiency is a metabolic (storage) disorder, encompassing a severe (Wolman disease) and attenuated (Cholesterol ester storage disease) subtype; both inherited as autosomal recessive traits. Cardinal clinical features include the combination of hepatic dysfunction and dyslipidemia, as a consequence of cholesteryl esters and triglyceride accumulation, predominately in the liver and vascular and reticuloendothelial system. Significant morbidity can arise, due to liver f ...[more]