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Article

Lecithin-cholesterol acyltransferase (LCAT) deficiency without mutations in the coding sequence: a case report and literature review.

Clinical nephrology - 1 Oct 2011

Shoji K, Morita H, Ishigaki Y, Rivard C J, Takayasu M, Nakayama K, Nakayama T, Inoue Y, Ayaki M, Yoshimura A

Abstract excerpt

Familial lecithin-cholesterol acyltransferase (LCAT) deficiency (FLD) is a rare genetic disease characterized by corneal opacities, normocytic anemia, dyslipidemia, and proteinuria progressing to chronic renal failure. In all FLD cases, a mutation has been found in the coding sequence of the LCAT gene. FLD is clinically distinguished from an acquired form of LCAT deficiency by the presence of corneal opacities....

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Identifiers

PMID: 21955868
DOI: 10.5414/cn106484

Genes

LCAT

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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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Lecithin-cholesterol acyltransferase (LCAT) deficiency without mutations in the coding sequence: a case report and literature review.PMID 21955868Read ↗

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