Raras
Buscar doenças, sintomas, genes...
Deficiência de LCAT
ORPHA:650CID-10 · E78.6CID-11 · 5C81.0DOENÇA RARA

A deficiência da LCAT (enzima lecitina-colesterol aciltransferase) é um problema raro no metabolismo das lipoproteínas, que se manifesta com opacidades na córnea (manchas esbranquiçadas nos olhos), e às vezes com insuficiência renal e anemia hemolítica. Em exames de laboratório, é caracterizada por níveis muito baixos do colesterol HDL (o "colesterol bom").

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Introdução

O que você precisa saber de cara

📋

A deficiência da LCAT (enzima lecitina-colesterol aciltransferase) é um problema raro no metabolismo das lipoproteínas, que se manifesta com opacidades na córnea (manchas esbranquiçadas nos olhos), e às vezes com insuficiência renal e anemia hemolítica. Em exames de laboratório, é caracterizada por níveis muito baixos do colesterol HDL (o "colesterol bom").

Pesquisas ativas
1 ensaio
60 total registrados no ClinicalTrials.gov
Publicações científicas
381 artigos
Último publicado: 2026 Mar

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
125
pacientes catalogados
Início
All ages
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: E78.6
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (6)
0202010279
Dosagem de aminoácidos (erros inatos)metabolic_test
0202010295
Dosagem de ácidos orgânicos na urinagenetic_test
0202010490
Teste de triagem para erros inatos do metabolismonewborn_screening
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202080013
Teste do pezinho (triagem neonatal)
0301070040
Atendimento em reabilitação — doenças raras
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🫘
Rins
5 sintomas
👁️
Olhos
4 sintomas
🩸
Sangue
3 sintomas
🫃
Digestivo
2 sintomas
😀
Face
1 sintomas
📏
Crescimento
1 sintomas

+ 8 sintomas em outras categorias

Características mais comuns

90%prev.
Concentração diminuída de colesterol HDL
Muito frequente (99-80%)
90%prev.
Nível diminuído de apolipoproteína AI
Muito frequente (99-80%)
90%prev.
Hipertrigliceridemia
Muito frequente (99-80%)
55%prev.
Opacidade corneana
Frequente (79-30%)
55%prev.
Anemia hemolítica
Frequente (79-30%)
55%prev.
Aterosclerose
Frequente (79-30%)
24sintomas
Muito frequente (3)
Frequente (6)
Ocasional (4)
Sem dados (11)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 24 características clínicas mais associadas, ordenadas por frequência.

Concentração diminuída de colesterol HDLDecreased HDL cholesterol concentration
Muito frequente (99-80%)90%
Nível diminuído de apolipoproteína AIDecreased apolipoprotein AI level
Muito frequente (99-80%)90%
HipertrigliceridemiaHypertriglyceridemia
Muito frequente (99-80%)90%
Opacidade corneanaCorneal opacity
Frequente (79-30%)55%
Anemia hemolíticaHemolytic anemia
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico381PubMed
Últimos 10 anos99publicações
Pico201912 papers
Linha do tempo
2026Hoje · 2026🧪 1998Primeiro ensaio clínico📈 2019Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.

LCATPhosphatidylcholine-sterol acyltransferaseDisease-causing germline mutation(s) inRestrito
FUNÇÃO

Central enzyme in the extracellular metabolism of plasma lipoproteins. Synthesized mainly in the liver and secreted into plasma where it converts cholesterol and phosphatidylcholines (lecithins) to cholesteryl esters and lysophosphatidylcholines on the surface of high and low density lipoproteins (HDLs and LDLs) (PubMed:10329423, PubMed:19065001, PubMed:26195816). The cholesterol ester is then transported back to the liver. Has a preference for plasma 16:0-18:2 or 18:O-18:2 phosphatidylcholines

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (1)
HDL remodeling
MECANISMO DE DOENÇA

Lecithin-cholesterol acyltransferase deficiency

A disorder of lipoprotein metabolism characterized by inadequate esterification of plasmatic cholesterol. Two clinical forms are recognized: complete LCAT deficiency and fish-eye disease. LCATD is generally referred to the complete form which is associated with absence of both alpha and beta LCAT activities resulting in esterification anomalies involving both HDL (alpha-LCAT activity) and LDL (beta-LCAT activity). It causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Fígado
117.3 TPM
Cerebelo
88.0 TPM
Tireoide
74.1 TPM
Nervo tibial
68.3 TPM
Cervix Endocervix
63.3 TPM
OUTRAS DOENÇAS (2)
fish eye diseaseNorum disease
HGNC:6522UniProt:P04180

Variantes genéticas (ClinVar)

77 variantes patogênicas registradas no ClinVar.

🧬 LCAT: NM_000229.2(LCAT):c.949_950del (p.Met317fs) ()
🧬 LCAT: GRCh37/hg19 16q22.1(chr16:67538639-69583342)x1 ()
🧬 LCAT: NM_000229.2(LCAT):c.1159C>T (p.Gln387Ter) ()
🧬 LCAT: GRCh37/hg19 16q22.1(chr16:67322830-69368947)x1 ()
🧬 LCAT: GRCh37/hg19 16q11.2-24.3(chr16:46432879-90294753)x3 ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 38 variantes classificadas pelo ClinVar.

21
13
4
Patogênica (55.3%)
VUS (34.2%)
Benigna (10.5%)
VARIANTES MAIS SIGNIFICATIVAS
LCAT: NM_000229.2(LCAT):c.493G>A (p.Ala165Thr) [Conflicting classifications of pathogenicity]
LCAT: NM_000229.2(LCAT):c.1113G>A (p.Thr371=) [Conflicting classifications of pathogenicity]
LCAT: NM_000229.2(LCAT):c.1173G>A (p.Val391=) [Conflicting classifications of pathogenicity]
LCAT: NM_000229.2(LCAT):c.465T>C (p.Asn155=) [Conflicting classifications of pathogenicity]
LCAT: NM_000229.2(LCAT):c.495C>T (p.Ala165=) [Conflicting classifications of pathogenicity]

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico3
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 3 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Deficiência de LCAT

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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

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Outros ensaios clínicos

60 ensaios clínicos encontrados, 1 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
101 papers (10 anos)
#1

Lecithin-cholesterol acyltransferase deficiency with the finding of "zebra bodies": A diagnostic challenge in the context of suspected Fabry disease.

Nefrologia2026 Mar

Lecithin-cholesterol acyltransferase (LCAT) deficiency is a rare autosomal recessive disorder resulting from mutations in the LCAT gene, which leads to abnormal lipoprotein metabolism. This results in markedly reduced high-density lipoprotein cholesterol and the accumulation of lipoprotein X, leading to renal, corneal, and hemolytic damage. Two clinical variants have been described: familial LCAT deficiency (FLD) and fish-eye disease (FED). We report the case of a 41-year-old male with a history of hypertension, tinnitus, and progressive hearing loss, who presented with bilateral corneal opacity since childhood. Laboratory studies revealed significant proteinuria (2.56 g/24 h), preserved renal function (creatinine 0.85 mg/dL), mild anemia (Hb 10.2 g/dL), and extremely low HDL cholesterol (1.3 mg/dL). Renal biopsy showed focal segmental glomerulosclerosis and mesangial expansion. Electron microscopy demonstrated concentric lamellar inclusions known as "zebra bodies," a finding typically associated with Fabry disease. However, α-galactosidase A activity was normal, and genetic testing for Fabry disease was negative. Further genetic analysis identified the variant c.757 p.(Gln253Argfs*11) in the LCAT gene, confirming the diagnosis of familial LCAT deficiency. This case highlights the importance of differentiating LCAT deficiency from Fabry disease, given their overlapping clinical and histological features. Moreover, it represents the first description of "zebra bodies" in LCAT deficiency, emphasizing the diagnostic complexity and the need for a multidisciplinary approach to ensure accurate diagnosis and appropriate management.

#2

Lecithin-Cholesterol Acyltransferase Deficiency as a Rare Cause of Bilateral Corneal Opacities: A Case Report of a Novel Frameshift Mutation.

Case reports in ophthalmology2026

Lecithin-cholesterol acyltransferase (LCAT) deficiency is a rare autosomal recessive disorder of lipid metabolism characterized by corneal opacification, hemolytic anemia, and chronic kidney disease. We describe the ophthalmic, systemic, and genetic findings of a patient with LCAT deficiency and report a novel frameshift mutation in the LCAT gene. Ophthalmic findings may represent the first clinical sign and guide the diagnosis. A 50-year-old white male with end-stage renal disease on hemodialysis and a history of recurrent hemolytic anemia was referred for bilateral corneal opacities. Despite diffuse opacification involving all corneal layers, his best corrected visual acuity remained 20/20 in both eyes with normal color vision, although contrast sensitivity was reduced. Laboratory testing revealed normocytic, normochromic anemia, low HDL cholesterol, and reduced apolipoprotein A levels. Genetic analysis identified compound heterozygosity in the LCAT gene: a novel frameshift variant c.580_598del p.(Ala194Serfs*64), classified as likely pathogenic, and the previously described missense variant c.619G>A p.(Gly207Ser), also classified as likely pathogenic. This case highlights the importance of considering metabolic disorders in the differential diagnosis of bilateral corneal opacities and expands the genetic spectrum of LCAT deficiency by reporting a novel frameshift mutation.

#3

A Case of Acquired LCAT Deficiency with the Discrepancy between Spontaneous Resolution of Proteinuria and Continually Low HDL Cholesterol Levels.

Journal of atherosclerosis and thrombosis2026 Feb 01

A 79-year-old Chinese man was referred for nephrotic syndrome (proteinuria 4.4 g/day). In blood tests, serum high-density lipoprotein (HDL) cholesterol was undetectable, and the esterified cholesterol to total cholesterol ratio was very low. Lecithin: cholesterol acyltransferase (LCAT) activity was also undetectable. Since he had neither corneal opacity nor pathological mutations in the LCAT gene and anti-LCAT antibodies were detected in serum, a diagnosis of acquired LCAT deficiency was made. Renal biopsy revealed glomerulopathy associated with LCAT deficiency and membranous nephropathy (MN). Since the patient's proteinuria did not improve despite prescribing an angiotensin II receptor blocker (ARB), we suggested the prescription of prednisolone, but he returned to China due to the expiration of his residence visa for Japan. One year after the initial visit, his proteinuria had improved to 0.9 g/day without immunosuppressive therapy. However, his HDL cholesterol level was still low at around 3 mg/dL, indicating a discrepancy between remission of nephrotic syndrome and lack of improvement in lipid levels.Of the 11 patients with acquired LCAT deficiency reported to date, 4 with undetectable LCAT activity and MN on renal biopsy required immunosuppressive therapy to alleviate proteinuria. The present patient was prescribed only an ARB according to his preference, which happened to be consistent with the MN treatment guideline that states, "Wait 6 months for spontaneous remission while using maximal antiproteinuric therapy." The clinical course of acquired LCAT deficiency varies, and further case reports are needed to determine the necessity of immunosuppressive therapy.

#4

Loss of LCAT function aggravates metabolic-associated steatohepatitis (MASH) in golden Syrian hamster.

Clinical science (London, England : 1979)2025 Nov 17

Lecithin cholesterol acyltransferase (LCAT) plays a pivotal role in acyl-esterifying cholesterol intravascularly, but its function in metabolic dysfunction-associated steatotic liver disease (MASLD) or steatohepatitis (MASH) has remained uncertain both in murine models and humans for decades, which is largely attributable to the distinct differences in cholesterol metabolism between mice and humans. Previously, we created a novel golden Syrian hamster model deficient in LCAT activity. Herein, we explored the influence of LCAT on the development of MASLD and MASH. A cross-sectional clinical study of LCAT activity and free cholesterol (FC) levels in healthy and MASLD patients was performed. LCAT knockout (LCAT KO) hamsters were used to explore the characteristics of cholesterol homeostasis and MASLD and MASH development. Lipidomics, mRNA-seq, and qPCR were employed to investigate the underlying mechanisms involved. MASLD patients displayed reduced LCAT activity, elevated FC levels, and ratio of FC/TC. Serum FC levels were positively correlated with triglyceride (TG), total cholesterol (TC), and apoB100 levels. In hamsters, LCAT deficiency resulted in increased FC levels and decreased high-density lipoprotein levels. Apolipoprotein profiles revealed increased ApoB100/48 and apoE but decreased apoAI. Increases in serum FC levels were primarily observed in LCAT-deficient hamster. Interestingly, LCAT KO hamsters presented mild TG species deposition in the liver even when fed a chow diet indicated by lipidomics. These increased TG species included TG (16:0/18:1/18:2), TG (16:0/18:1/18:3), and TG (16:0/16:1/18:1). On a high-fat and high-cholesterol diet, LCAT-deficient hamsters developed severe liver ballooning, inflammation, and fibrosis. Using HepG2 cells and primary hepatocytes confirmed that FC increased intracellular lipogenesis and promoted inflammatory response, which was reversed by a NLRP3 inhibitor. In summary, LCAT deficiency in hamsters promotes liver lipid deposition and MASH progression, thus highlighting the therapeutic role of LCAT in MASLD and MASH.

#5

Quantitative Assessment of Visual Function in Japanese Patients With Lecithin-Cholesterol Acyltransferase Gene Abnormalities: A Case-Control Study.

Cureus2025 Dec

Introduction Fish-eye disease (FED) and familial lecithin-cholesterol acyltransferase (LCAT) deficiency (FLD) are rare. The aim of this study was to compare visual function between patients with LCAT abnormalities - namely, FED and FLD - and healthy controls. Methods This retrospective, comparative case-control study included four patients with FLD or FED (LCAT group) who presented with cloudy corneas at Miyata Eye Hospital between 2018 and 2024. Four age- and sex-matched individuals with normal results on ophthalmic examination were included as controls. We reviewed medical records for best-corrected visual acuity (BCVA), corneal astigmatism, forward light scattering, and contrast sensitivity. The parameters were compared between the groups. Results Sixteen eyes of eight women were included, including eight eyes of four patients with cloudy corneas in the LCAT group (two with FLD and six with FED) and eight eyes of four controls. The mean BCVA and corneal astigmatism revealed no significant intergroup differences. However, forward scattering was significantly higher in the LCAT group than in the control group (p = 0.007). The area under the log-contrast sensitivity function was significantly lower in the LCAT group than in the control group (p = 0.017). Conclusions Despite normal BCVA, patients with LCAT abnormalities (FLD and FED) showed considerably increased forward light scattering and decreased contrast sensitivity compared with the controls, indicating subtle but substantial visual functional impairment.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC123 artigos no totalmostrando 98

2026

Lecithin-cholesterol acyltransferase deficiency with the finding of "zebra bodies": A diagnostic challenge in the context of suspected Fabry disease.

Nefrologia
2026

Lecithin-Cholesterol Acyltransferase Deficiency as a Rare Cause of Bilateral Corneal Opacities: A Case Report of a Novel Frameshift Mutation.

Case reports in ophthalmology
2025

Quantitative Assessment of Visual Function in Japanese Patients With Lecithin-Cholesterol Acyltransferase Gene Abnormalities: A Case-Control Study.

Cureus
2025

Loss of LCAT function aggravates metabolic-associated steatohepatitis (MASH) in golden Syrian hamster.

Clinical science (London, England : 1979)
2025

IgG3κ Monoclonal Membranous Nephropathy Associated With Acquired Lecithin Cholesterol Acyltransferase Deficiency.

American journal of kidney diseases : the official journal of the National Kidney Foundation
2026

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
2025

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
2025

Lipoprotein X - Pathophysiology, diagnosis, and management.

Journal of clinical lipidology
2025

LCAT deficiency promotes hepatocellular carcinoma progression and lenvatinib resistance by promoting triglyceride catabolism and fatty acid oxidation.

Cancer letters
2025

Novel pathogenic variant in the LCAT gene in a compound heterozygous patient with fish-eye disease and a mild phenotype.

Journal of clinical lipidology
2024

Gliflozins, sucrose and flavonoids are allosteric activators of lecithin-cholesterol acyltransferase.

Scientific reports
2024

A Novel Symptomatic Lecithin-Cholesterol Acyltransferase Gene Mutation With Corneal Amyloidosis.

Cornea
2024

Rescue of Familial Lecithin:Cholesterol Acyltranferase Deficiency Mutations with an Allosteric Activator.

Molecular pharmacology
2024

Unveiling Renal Lipid Deposition: A Rare Case of Hepatic Glomerulosclerosis Resembling Lecithin-Cholesterol Acyltransferase (LCAT) Deficiency Post Liver Transplantation.

Cureus
2024

A novel splicing variant in ABCA1 in the first reported Hong Kong Chinese patient with high-density lipoprotein deficiency.

Endocrinology, diabetes &amp; metabolism case reports
2024

Longitudinal analysis of clinical and laboratory biomarkers in a patient with familial lecithin: cholesterol acyltransferase deficiency (FLD) and accelerated eGFR decline: A case study.

Journal of clinical lipidology
2024

Estrogen Induces LCAT to Maintain Cholesterol Homeostasis and Suppress Hepatocellular Carcinoma Development.

Cancer research
2024

Familial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations.

The application of clinical genetics
2024

A High-Throughput NMR Method for Lipoprotein-X Quantification.

Molecules (Basel, Switzerland)
2023

Abnormal Lipoproteins Trigger Oxidative Stress-Mediated Apoptosis of Renal Cells in LCAT Deficiency.

Antioxidants (Basel, Switzerland)
2023

HDL and chronic kidney disease.

Atherosclerosis plus
2023

Very low HDL levels: clinical assessment and management.

Archives of endocrinology and metabolism
2022

Two novel variants in the lecithin:cholesterol acyltransferase gene resulted in classic LCAT deficiency.

Atherosclerosis plus
2023

A rare case of nephrotic syndrome and Tangier disease.

CEN case reports
2023

Novel therapeutic opportunities for familial lecithin:cholesterol acyltransferase deficiency: promises and challenges.

Current opinion in lipidology
2023

Rapidly progressive renal failure to reveal LCAT deficiency in an Algerian family.

Clinical nephrology
2022

First-in-human autologous implantation of genetically modified adipocytes expressing LCAT for the treatment of familial LCAT deficiency.

Heliyon
2022

Apolipoprotein-A-I for severe COVID-19-induced hyperinflammatory states: A prospective case study.

Frontiers in pharmacology
2023

A rare case of renal involvement in Lecithin-Cholesterol Acyltransferase (LCAT) deficiency: lessons for the clinical nephrologist.

Journal of nephrology
2022

A Simple Fluorescent Cholesterol Labeling Method to Cryoprotect and Detect Plasma Lipoprotein-X.

Biology
2022

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
2022

Plasma FA composition in familial LCAT deficiency indicates SOAT2-derived cholesteryl ester formation in humans.

Journal of lipid research
2022

Familial lecithin-cholesterol acyltransferase deficiency: If so rare, why so frequent in the state of Piauí, northeastern Brazil?

Molecular genetics and metabolism reports
2022

Clinical Dilemma of Corneal Opacity, Very Low High-density Lipoprotein, and Nephrotic Syndrome: Mystery Revealed.

Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia
2022

LCAT- targeted therapies: Progress, failures and future.

Biomedicine &amp; pharmacotherapy = Biomedecine &amp; pharmacotherapie
2022

A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency.

Journal of lipid research
2022

A novel pathogenic variant in LCAT causing FLD. A case report.

Acta clinica Belgica
2022

The HDL mimetic CER-001 remodels plasma lipoproteins and reduces kidney lipid deposits in inherited lecithin:cholesterol acyltransferase deficiency.

Journal of internal medicine
2021

LCAT deficiency and pregnancy: Case report.

Obstetric medicine
2021

LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred.

Lipids in health and disease
2021

Using Literature Based Discovery to Gain Insights Into the Metabolomic Processes of Cardiac Arrest.

Frontiers in research metrics and analytics
2021

Current Status of Familial LCAT Deficiency in Japan.

Journal of atherosclerosis and thrombosis
2021

High-Density Lipoproteins and the Kidney.

Cells
2021

rHDL modeling and the anchoring mechanism of LCAT activation.

Journal of lipid research
2021

CER-001 ameliorates lipid profile and kidney disease in a mouse model of familial LCAT deficiency.

Metabolism: clinical and experimental
2020

Progression of chronic kidney disease in familial LCAT deficiency: a follow-up of the Italian cohort.

Journal of lipid research
2020

Spontaneous Atherosclerosis in Aged LCAT-Deficient Hamsters With Enhanced Oxidative Stress-Brief Report.

Arteriosclerosis, thrombosis, and vascular biology
2020

Activation of Naturally Occurring Lecithin:Cholesterol Acyltransferase Mutants by a Novel Activator Compound.

The Journal of pharmacology and experimental therapeutics
2020

Genetic, biochemical, and clinical features of LCAT deficiency: update for 2020.

Current opinion in lipidology
2020

Esterification of 4β-hydroxycholesterol and other oxysterols in human plasma occurs independently of LCAT.

Journal of lipid research
2023

Familial LCAT deficiency and cardiovascular disease: the game is not over. A case of dramatic multivessel atherosclerosis.

Minerva medica
2020

Lecithin:cholesterol acyltransferase: symposium on 50 years of biomedical research from its discovery to latest findings.

Journal of lipid research
2020

Novel lecithin: cholesterol acyltransferase-based therapeutic approaches.

Current opinion in lipidology
2020

LCAT protects against Lipoprotein-X formation in a murine model of drug-induced intrahepatic cholestasis.

Pharmacology research &amp; perspectives
2019

Lipid Profile Rather Than the LCAT Mutation Explains Renal Disease in Familial LCAT Deficiency.

Journal of clinical medicine
2019

Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase gene in a Chilean patient with hypoalphalipoproteinemia.

Lipids in health and disease
2019

The P274S Mutation of Lecithin-Cholesterol Acyltransferase (LCAT) and Its Clinical Manifestations in a Large Kindred.

American journal of kidney diseases : the official journal of the National Kidney Foundation
2019

Plasma lipoprotein-X quantification on filipin-stained gels: monitoring recombinant LCAT treatment ex vivo.

Journal of lipid research
2019

Impact of apolipoprotein A1- or lecithin:cholesterol acyltransferase-deficiency on white adipose tissue metabolic activity and glucose homeostasis in mice.

Biochimica et biophysica acta. Molecular basis of disease
2019

Case Report: Management of Corneal Clouding from Lecithin: Cholesterol Acyltransferase Deficiency.

Optometry and vision science : official publication of the American Academy of Optometry
2019

LCAT Enzyme Replacement Therapy Reduces LpX and Improves Kidney Function in a Mouse Model of Familial LCAT Deficiency.

The Journal of pharmacology and experimental therapeutics
2019

[Glomerulopathy associated with lecithin-cholesterol-acyltransferase deficiency: A case report and literature review].

Annales de pathologie
2019

A proteomic approach to identify novel disease biomarkers in LCAT deficiency.

Journal of proteomics
2019

Finding a very rare mutation in non-Caucasian LCAT patients from Southwest Asia for the first time.

Journal of cellular biochemistry
2019

Lipoprotein-X fifty years after its original discovery.

Nutrition, metabolism, and cardiovascular diseases : NMCD
2018

Molecular basis for activation of lecithin:cholesterol acyltransferase by a compound that increases HDL cholesterol.

eLife
2019

Ocular and Genetic Characteristics Observed in Two Cases of Fish-Eye Disease.

Cornea
2018

Paradoxical fall in proteinuria during pregnancy in an LCAT-deficient patient-A case report.

Journal of clinical lipidology
2018

Lp8 is potentially associated with partial lecithin:cholesterol acyltransferase deficiency in a patient with primary biliary cirrhosis.

Journal of clinical lipidology
2018

Immune-mediated acquired lecithin-cholesterol acyltransferase deficiency: A case report and literature review.

Journal of clinical lipidology
2018

Complete and Partial Lecithin:Cholesterol Acyltransferase Deficiency Is Differentially Associated With Atherosclerosis.

Circulation
2018

LCAT deficiency as a cause of proteinuria and corneal opacification.

BMJ case reports
2018

Loss of LCAT activity in the golden Syrian hamster elicits pro-atherogenic dyslipidemia and enhanced atherosclerosis.

Metabolism: clinical and experimental
2018

Novel metabolic phenotypes in lecithin cholesterol acyltyransferase-deficient mice.

Current opinion in lipidology
2018

Novel Missense LCAT Gene Mutation Associated with an Atypical Phenotype of Familial LCAT Deficiency in Two Portuguese Brothers.

JIMD reports
2017

A novel homozygous mutation causing lecithin-cholesterol acyltransferase deficiency in a proband of Romanian origin with a record of extreme gestational hyperlipidemia.

Journal of clinical lipidology
2018

Development of a novel fluorescent activity assay for lecithin:cholesterol acyltransferase.

Annals of clinical biochemistry
2017

AJKD Atlas of Renal Pathology: Lecithin-Cholesterol Acyltransferase (LCAT) Deficiency.

American journal of kidney diseases : the official journal of the National Kidney Foundation
2016

A case of acquired lecithin:cholesterol acyltransferase deficiency with sarcoidosis that remitted spontaneously.

CEN case reports
2017

Depletion in LpA-I:A-II particles enhances HDL-mediated endothelial protection in familial LCAT deficiency.

Journal of lipid research
2016

[Lecithin:Cholesterol Acyltransferase Deficiency, from genes to therapy].

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia
2016

Familial Lecithin Cholesterol Acyl Transferase Deficiency with Chronic Kidney Disease.

The Journal of the Association of Physicians of India
2016

Sequential kidney-liver transplantation from the same living donor for lecithin cholesterol acyl transferase deficiency.

Clinical transplantation
2016

ApoA-IMilano phospholipid complex (ETC-216) infusion in human volunteers. Insights into the phenotypic characteristics of ApoA-IMilano carriers.

Pharmacological research
2016

[Gene-manipulated Adipocytes for the Treatment of Various Intractable Diseases].

Yakugaku zasshi : Journal of the Pharmaceutical Society of Japan
2016

Familial lecithin:cholesterol acyltransferase deficiency: First-in-human treatment with enzyme replacement.

Journal of clinical lipidology
2016

Lipoprotein X Causes Renal Disease in LCAT Deficiency.

PloS one
2017

An unusual presentation of LCAT deficiency as nephrotic syndrome with normal serum HDL-C level.

Journal of nephropharmacology
2015

Co-existence of classic familial lecithin-cholesterol acyl transferase deficiency and fish eye disease in the same family.

Indian journal of nephrology
2016

Safety and Tolerability of ACP-501, a Recombinant Human Lecithin:Cholesterol Acyltransferase, in a Phase 1 Single-Dose Escalation Study.

Circulation research
2016

Role of LCAT in Atherosclerosis.

Journal of atherosclerosis and thrombosis
2016

Histiocytic and Nonhistiocytic Glomerular Lesions: Foam Cells and Their Mimickers.

American journal of kidney diseases : the official journal of the National Kidney Foundation
2015

Lecithin:Cholesterol Acyltransferase (LCAT) Deficiency Promotes Differentiation of Satellite Cells to Brown Adipocytes in a Cholesterol-dependent Manner.

The Journal of biological chemistry
2015

Beta2-adrenergic activity modulates vascular tone regulation in lecithin:cholesterol acyltransferase knockout mice.

Vascular pharmacology
2015

Lack of LCAT reduces the LPS-neutralizing capacity of HDL and enhances LPS-induced inflammation in mice.

Biochimica et biophysica acta
2015

Structure and function of lysosomal phospholipase A2 and lecithin:cholesterol acyltransferase.

Nature communications
2015

Familial lecithin-cholesterol acyltransferase (LCAT) deficiency; a differential of proteinuria.

Journal of nephropathology
2015

A robust all-atom model for LCAT generated by homology modeling.

Journal of lipid research
Ver todos os 123 no EuropePMC

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Doenças relacionadas

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Lecithin-cholesterol acyltransferase deficiency with the finding of "zebra bodies": A diagnostic challenge in the context of suspected Fabry disease.
    Nefrologia· 2026· PMID 41720735mais citado
  2. Lecithin-Cholesterol Acyltransferase Deficiency as a Rare Cause of Bilateral Corneal Opacities: A Case Report of a Novel Frameshift Mutation.
    Case reports in ophthalmology· 2026· PMID 41551200mais citado
  3. 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· 2026· PMID 40930774mais citado
  4. Loss of LCAT function aggravates metabolic-associated steatohepatitis (MASH) in golden Syrian hamster.
    Clinical science (London, England : 1979)· 2025· PMID 41195480mais citado
  5. Quantitative Assessment of Visual Function in Japanese Patients With Lecithin-Cholesterol Acyltransferase Gene Abnormalities: A Case-Control Study.
    Cureus· 2025· PMID 41542003mais citado
  6. IgG3κ Monoclonal Membranous Nephropathy Associated With Acquired Lecithin Cholesterol Acyltransferase Deficiency.
    Am J Kidney Dis· 2025· PMID 40975265recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:650(Orphanet)
  2. MONDO:0018999(MONDO)
  3. GARD:16539(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q56014242(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Deficiência de LCAT
Compêndio · Raras BR

Deficiência de LCAT

ORPHA:650 · MONDO:0018999
Prevalência
<1 / 1 000 000
Casos
125 casos conhecidos
Herança
Autosomal recessive
CID-10
E78.6 · Deficiências de lipoproteínas
CID-11
Ensaios
1 ativos
Início
All ages
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0023195
EuropePMC
Wikidata
Papers 10a
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