Large‐scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23837
Abstract: Lysosomal acid lipase (LAL) deficiency is an autosomal recessive disorder caused by LIPA gene mutations that disrupt LAL activity. We performed in vitro functional testing of 149 LIPA variants to increase the understanding of the… read more here.
Keywords: prevalence estimates; lysosomal acid; prevalence; acid lipase ... See more keywords
Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?
Sign Up to like & getrecommendations! Published in 2017 at "Journal of clinical lipidology"
DOI: 10.1016/j.jacl.2016.11.002
Abstract: BACKGROUND Lysosomal acid lipase deficiency (LALD) is an autosomal recessive disorder and an unrecognized cause of dyslipidemia. Patients usually present with dyslipidemia and altered liver function and mutations in LIPA gene are the underlying cause… read more here.
Keywords: familial hypercholesterolemia; acid lipase; lipase deficiency; lysosomal acid ... See more keywords
The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: A rare condition that mimics NAFLD.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of hepatology"
DOI: 10.1016/j.jhep.2018.09.028
Abstract: BACKGROUND & AIMS Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive condition that may present in a mild form (cholesteryl ester storage disease [CESD]), which mimics non-alcoholic fatty liver disease (NAFLD). It has been… read more here.
Keywords: lal; condition; lysosomal acid; disease ... See more keywords
Update on lysosomal acid lipase deficiency: Diagnosis, treatment and patient management.
Sign Up to like & getrecommendations! Published in 2017 at "Medicina clinica"
DOI: 10.1016/j.medcli.2016.12.044
Abstract: Lysosomal acid lipase deficiency (LALD) is an ultra-rare disease caused by a congenital disorder of the lipid metabolism, characterized by the deposition of cholesterol esters and triglycerides in the organism. In patients with no enzyme… read more here.
Keywords: lipase deficiency; treatment; lysosomal acid; disease ... See more keywords
Lysosomal acid lipase deficiency allograft recurrence and liver failure- clinical outcomes of 18 liver transplantation patients.
Sign Up to like & getrecommendations! Published in 2018 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2018.03.010
Abstract: Lysosomal acid lipase deficiency (LAL-D) results in progressive microvesicular hepatosteatosis, fibrosis, cirrhosis, dyslipidemia, and vascular disease. Interventions available prior to enzyme replacement therapy development, including lipid lowering medications, splenectomy, hematopoietic stem cell and liver transplantation… read more here.
Keywords: lysosomal acid; disease; acid lipase; transplantation ... See more keywords
Clinical outcome of a patient with lysosomal acid lipase deficiency and first results after initiation of treatment with Sebelipase alfa: A case report
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2019.100479
Abstract: We report on a case of very rare autosomal recessive cholesteryl ester storage disease due to lysosomal acid lipase deficiency (LALD). LALD is caused by mutations in the lysosomal acid lipase A (LIPA) gene resulting… read more here.
Keywords: acid lipase; lysosomal acid; sebelipase alfa; patient ... See more keywords
Progressive macrophage accumulation in lysosomal acid lipase deficiency
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2020.100594
Abstract: Lysosomal acid lipase (LAL) deficiency (LAL-D) is a lysosomal lipid storage disorder in which the accumulation of cholesteryl esters and triglycerides predominantly in hepatocytes and cells of the macrophage-monocyte system is observed. The disturbance in… read more here.
Keywords: accumulation; macrophage accumulation; lysosomal acid; acid lipase ... See more keywords
Progression of liver disease in children and adults with lysosomal acid lipase deficiency
Sign Up to like & getrecommendations! Published in 2017 at "Current Medical Research and Opinion"
DOI: 10.1080/03007995.2017.1309371
Abstract: Abstract Background and objective: Manifestations of the autosomal recessive disorder lysosomal acid lipase deficiency (LAL-D) include hepatomegaly, elevated serum liver enzymes, and progressive liver disease. We report an analysis of time to progression from first… read more here.
Keywords: lipase deficiency; lysosomal acid; liver; acid lipase ... See more keywords
Characterization of the mechanisms by which missense mutations in the lysosomal acid lipase gene disrupt enzymatic activity.
Sign Up to like & getrecommendations! Published in 2019 at "Human molecular genetics"
DOI: 10.1093/hmg/ddz114
Abstract: Hydrolysis of cholesteryl esters and triglycerides in the lysosome is performed by lysosomal acid lipase (LAL). In this study we have investigated how 23 previously identified missense mutations in the LAL gene (LIPA) (OMIM# 613497)… read more here.
Keywords: enzymatic activity; lysosomal acid; acid lipase; missense mutations ... See more keywords
Long-term Sebelipase Alfa Treatment in Children and Adults With Lysosomal Acid Lipase Deficiency.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of pediatric gastroenterology and nutrition"
DOI: 10.1097/mpg.0000000000003452
Abstract: OBJECTIVES Sebelipase alfa is approved for treatment of lysosomal acid lipase deficiency (LAL-D). This single-arm, open-label study (NCT02112994) evaluated sebelipase alfa efficacy and safety in patients with LAL-D. METHODS Patients >8 months of age diagnosed with… read more here.
Keywords: treatment; sebelipase alfa; acid lipase; lysosomal acid ... See more keywords
Lysosomal acid lipase activity and liver fibrosis in the clinical continuum of non‐alcoholic fatty liver disease
Sign Up to like & getrecommendations! Published in 2019 at "Liver International"
DOI: 10.1111/liv.14206
Abstract: Recent evidence showed a reduced activity of the lysosomal acid lipase (LAL) in patients with non‐alcoholic fatty liver disease (NAFLD) and cryptogenic cirrhosis (CC). However, the relationship between LAL activity and liver fibrosis has never… read more here.
Keywords: alcoholic fatty; fatty liver; non alcoholic; lysosomal acid ... See more keywords