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Article

The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes.

Journal of lipid research - 1 Feb 1997

Kuivenhoven J A, Pritchard H, Hill J, Frohlich J, Assmann G, Kastelein J

Abstract excerpt

Lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes represent a group of rare genetic disorders of HDL metabolism that have been the subject of a large number of clinical, biochemical, and genetic studies. Of special interest are patients with LCAT-related disorders with severe HDL deficiency and the apparent absence of premature atherosclerosis. This finding is inconsistent with the general concept...

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Identifiers

PMID: 9162740

Genes

LCAT
CAD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes.PMID 9162740Read ↗

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Genetic lecithin:cholesterol acyltransferase deficiency and cardiovascular disease.Semantic proximity Read ↗

Lecithin: cholesterol acyltransferase deficiency and fish-eye diseaseSemantic proximity Read ↗

Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease.Semantic proximity Read ↗

A unique genetic and biochemical presentation of fish-eye disease.Semantic proximity Read ↗

Novel therapeutic opportunities for familial lecithin:cholesterol acyltransferase deficiency: promises and challenges.Semantic proximity Read ↗

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

Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease.Semantic proximity Read ↗

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

Two novel molecular defects in the LCAT gene are associated with fish eye disease.Semantic proximity Read ↗

LCAT deficiency: molecular and phenotypic characterization of an Italian family.Semantic proximity Read ↗

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