Orphanet Journal of Rare Diseases, 2018 Background Lysosomal acid lipase deficiency is an autosomal recessive metabolic disease with a wide range of severity from Wolman Disease to Cholesterol Ester Storage Disease. Recently enzyme replacement therapy with sebelipase alpha has been approved by
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THE DISEASE IS THE ACCUMULATION OF CHOLESTEROL ESTERS DUE TO DEFICIT OF LYSOSOMAL ACID LIPASE. CLINICAL CASE OF LYSOSOMAL ACID LIPASE DEFICIENCY IS DESCRIBED IN THIS ARTICLE [PDF]
Медицинский совет, 2018 Lysosomal acid lipase deficiency (LAL D) is an orphan disease connected with accumulation of cholesterol estersin different organs, interest to this disease increased due to the possibility of enzyme replacement therapy.
S. A. Loskutova +2 more
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Rescue of lysosomal acid lipase deficiency in mice by rAAV8 liver gene transfer [PDF]
Communications MedicineBackground Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive disorder caused by mutations in the LIPA gene, which results in lipid accumulation leading to multi-organ failure.
Marine Laurent +16 more
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Frequency of lysosomal acid lipase deficiency in patients with primary hyperlipidemia
Medicine Science, 2019 The aim of our study was to investigate the prevalence of LAL (lysosomal acid lipase) deficiency in patients with primary hyperlipidemia. Twenty-four patients with primary hyperlipidemia were included in the study.
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Lysosomal acid lipase deficiency – early diagnosis is the key
Hepatic Medicine: Evidence and Research, 2019 Georg Strebinger, Elena Müller, Alexandra Feldman, Elmar AignerFirst Department of Medicine, Paracelsus Medical University, Salzburg, AustriaAbstract: Lysosomal acid lipase deficiency (LAL-D) is an ultra-rare lysosomal storage disease that may ...
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Novel treatment options for lysosomal acid lipase deficiency: critical appraisal of sebelipase alfa
The Application of Clinical Genetics, 2016 Kim Su,1 Emma Donaldson,1 Reena Sharma2 1Division of Gastroenterology/Hepatology, 2The Mark Holland Metabolic Unit, Salford Royal Hospital NHS Foundation Trust, Salford, UK Abstract: Lysosomal acid lipase deficiency (LAL-D) is a rare disorder of ...
Su K, Donaldson E, Sharma R
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Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study. [PDF]
Int J Mol Sci, 2022 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
Mashima R, Takada S.
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Dissecting cell type–specific impact in lysosomal acid lipase deficiency–associated disorders [PDF]
Journal of Lipid Research, 2023 Marit Westerterp, Fang Li, Hanrui Zhang
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Recent insights into lysosomal acid lipase deficiency. [PDF]
Trends Mol Med, 2023 Lysosomal acid lipase (LAL) is the sole enzyme known to degrade neutral lipids in the lysosome. Mutations in the LAL-encoding LIPA gene lead to rare lysosomal lipid storage disorders with complete or partial absence of LAL activity. This review discusses the consequences of defective LAL-mediated lipid hydrolysis on cellular lipid homeostasis ...
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Lysosomal acid lipase deficiency [PDF]
, 2020 Lysosomal acid lipase hydrolyzes cholesteryl esters and triglycerides to generate free fatty acids and cholesterol in the cell and is a critical step in human lipid metabolism. Lysosomal acid lipase deficiency is a rare, monogenic autosomal recessive lysosomal storage disorder caused by mutations in the lipase A (LIPA) gene, resulting in reduced or ...
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