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LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
26 publications have been identified in PubMed for LCAT deficiency. Research spans Case Report / Case Series (58%), Review / Meta-Analysis (19%), and Basic Science / Preclinical (12%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 15 | 58% |
Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 10:44 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about LCAT deficiency
Research summaries |
5 |
19% |
Laboratory research | 3 | 12% |
Disease patterns and progression | 2 | 8% |
New treatment approaches | 1 | 4% |
Zhu Y (2026). [PMID: 42080096](https://pubmed.ncbi.nlm.nih.gov/42080096/). *Front Genet*. [Case Report / Case Series]
Matsuo M (2026). [PMID: 40930774](https://pubmed.ncbi.nlm.nih.gov/40930774/). *J Atheroscler Thromb*. [Case Report / Case Series]
Carty JR (2026). [PMID: 38753926](https://pubmed.ncbi.nlm.nih.gov/38753926/). *Unknown Journal*. [Review / Meta-Analysis]
Sato T (2026). [PMID: 42178263](https://pubmed.ncbi.nlm.nih.gov/42178263/). *Intern Med*. [Case Report / Case Series]
Yamazaki T (2026). [PMID: 42159827](https://pubmed.ncbi.nlm.nih.gov/42159827/). *CEN Case Rep*. [Case Report / Case Series]
Rodriguez Mori JE (2026). [PMID: 41720735](https://pubmed.ncbi.nlm.nih.gov/41720735/). *Nefrologia (Engl Ed)*. [Case Report / Case Series]
Mendes J (2026). [PMID: 41551200](https://pubmed.ncbi.nlm.nih.gov/41551200/). *Case Rep Ophthalmol*. [Case Report / Case Series]
Huynh BC (2026). [PMID: 41152071](https://pubmed.ncbi.nlm.nih.gov/41152071/). *Ophthalmic Genet*. [Case Report / Case Series]
Bu L (2025). [PMID: 40975265](https://pubmed.ncbi.nlm.nih.gov/40975265/). *Am J Kidney Dis*. [Case Report / Case Series]
Miyata M (2025). [PMID: 39537502](https://pubmed.ncbi.nlm.nih.gov/39537502/). *J Clin Lipidol*. [Case Report / Case Series]
AI-curated news mentioning LCAT deficiency
Updated May 23, 2026
A case report highlights severe HDL-C deficiency due to acquired LCAT deficiency, utilizing lipidomic profiling and anti-LCAT autoantibody detection. This research contributes to understanding lipid metabolism disorders.