ReviewJournal of atherosclerosis and thrombosis2021
Current Status of Familial LCAT Deficiency in Japan.
Review in Journal of atherosclerosis and thrombosis, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 17 citations in OpenAlex.
- A Case of Acquired LCAT Deficiency with the Discrepancy between Spontaneous Resolution of Proteinuria and Continually Low HDL Cholesterol Levels.Journal of atherosclerosis and thrombosis · 2026Article
- Aberrant Cholesterol Metabolism Caused by Decreased Lecithin: Cholesterol Acyltransferase Promoted Hepatocarcinogenesis.Journal of hepatocellular carcinoma · 2026Article
- Short-Term Treatment for Immune-Mediated Acquired Lecithin-Cholesterol Acyltransferase Deficiency Restores the High-Density Lipoprotein Function: A Case Report.Journal of atherosclerosis and thrombosis · 2025Article
- Uncommon Factors Leading to Nephrotic Syndrome.Biomedicines · 2025Review
- A Rare Case of Autoimmune-Mediated Lecithin:Cholesterol Acyltransferase Insufficiency Manifesting as the Acute Onset of Extremely Hypo-High-Density Lipoprotein-Cholesterolemia and Spontaneous Improvement: A Case Report with a Review of the Literature.Journal of atherosclerosis and thrombosis · 2025Review
- Unlocking Cholesterol Metabolism in Metabolic-Associated Steatotic Liver Disease: Molecular Targets and Natural Product Interventions.Pharmaceuticals (Basel, Switzerland) · 2024Review
- Transitional Medicine of Intractable Primary Dyslipidemias in Japan.Journal of atherosclerosis and thrombosis · 2024Review
- Familial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations.The application of clinical genetics · 2024Article
- Two Cases of Acquired High-Density Lipoprotein Deficiency with Immunoglobulin G4-Related Lecithin-Cholesterol Acyltransferase Autoantibody.Journal of atherosclerosis and thrombosis · 2023Article
- LCAT-trial-24 weeks: Protocol for a clinical study to evaluate the safety of regenerative medicine and gene therapy by the autologous transplantation of human lecithin:cholesterol acyltransferase gene-transduced human pre-adipocytes.Contemporary clinical trials communications · 2022Article
- Prospective Registry Study of Primary Dyslipidemia (PROLIPID): Rationale and Study Design.Journal of atherosclerosis and thrombosis · 2022Article
- A Novel Missense Mutation in a Compound Heterozygous Patient with Fish-Eye Disease: A Case Report.Case reports in ophthalmologyArticle
Corrections and comments
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Authors and funding
16 authors at 13 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lecithin cholesterol acyltransferase (LCAT) is a lipid-modification enzyme that catalyzes the transfer of the acyl chain from the second position of lecithin to the hydroxyl group of cholesterol (FC) on plasma lipoproteins to form cholesteryl acylester and lysolecithin. Familial LCAT deficiency is an intractable autosomal recessive disorder caused by inherited dysfunction of the LCAT enzyme. The disease appears in two different phenotypes depending on the position of the gene mutation: familial LCAT deficiency (FLD, OMIM 245900) that lacks esterification activity on both HDL and ApoB-containing lipoproteins, and fish-eye disease (FED, OMIM 136120) that lacks activity only on HDL. Impaired metabolism of cholesterol and phospholipids due to LCAT dysfunction results in abnormal concentrations, composition and morphology of plasma lipoproteins and further causes ectopic lipid accumulation and/or abnormal lipid composition in certain tissues/cells, and serious dysfunction and complications in certain organs. Marked reduction of plasma HDL-cholesterol (HDL-C) and corneal opacity are common clinical manifestations of FLD and FED. FLD is also accompanied by anemia, proteinuria and progressive renal failure that eventually requires hemodialysis. Replacement therapy with the LCAT enzyme should prevent progression of serious complications, particularly renal dysfunction and corneal opacity. A clinical research project aiming at gene/cell therapy is currently underway.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.