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Article

Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase.

Atherosclerosis - 1 May 2011

Holleboom A G, Kuivenhoven J A, van Olden C C, Peter J, Schimmel A W, Levels J H, Valentijn R M, Vos P, Defesche J C, Kastelein J J P, Hovingh G K, Stroes E S G, Hollak C E M

Abstract excerpt

INTRODUCTION: Familial lecithin:cholesterol acyltransferase (LCAT) deficiency (FLD) is a rare recessive disorder of cholesterol metabolism characterized by the absence of high density lipoprotein (HDL) and the triad of corneal opacification, hemolytic anemia and glomerulopathy. PATIENTS: We here report on FLD in three siblings of a kindred of Moroccan descent with HDL deficiency. In all cases (17, 12 and 3 years...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21315357
DOI: 10.1016/j.atherosclerosis.2011.01.025

Genes

LCAT
ACE

Provenance

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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