Mashima_2022_Int.J.Mol.Sci_23_

Reference

Title : Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study - Mashima_2022_Int.J.Mol.Sci_23_
Author(s) : Mashima R , Takada S
Ref : Int J Mol Sci , 23 : , 2022
Abstract :

Lysosomal acid lipase (LAL) is a lysosomal enzyme essential for the degradation of cholesteryl esters through the endocytic pathway. Deficiency of the LAL enzyme encoded by the LIPA gene leads to LAL deficiency (LAL-D) (OMIM 278000), one of the lysosomal storage disorders involving 50-60 genes. Among the two disease subtypes, the severe disease subtype of LAL-D is known as Wolman disease, with typical manifestations involving hepatomegaly, splenomegaly, vomiting, diarrhea, and hematopoietic abnormalities, such as anemia. In contrast, the mild disease subtype of this disorder is known as cholesteryl ester storage disease, with hypercholesterolemia, hypertriglyceridemia, and high-density lipoprotein disappearance. The prevalence of LAL-D is rare, but several treatment options, including enzyme replacement therapy, are available. Accordingly, a number of screening methodologies have been developed for this disorder. This review summarizes the current discussion on LAL-D, covering genetics, screening, and the tertiary structure of human LAL enzyme and preclinical study for the future development of a novel therapy.

PubMedSearch : Mashima_2022_Int.J.Mol.Sci_23_
PubMedID: 36555187
Gene_locus related to this paper: human-LIPA

Citations formats

Mashima R, Takada S (2022)
Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study
Int J Mol Sci 23 :

Mashima R, Takada S (2022)
Int J Mol Sci 23 :