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[Familial LCAT deficiency]

M Kinoshita1

  • 1First Department of Internal Medicine, Teikyo University School of Medicine.

Nihon Rinsho. Japanese Journal of Clinical Medicine
|December 1, 1994
PubMed
Summary

Familial lecithin: cholesterol acyltransferase (LCAT) deficiency causes corneal opacities and anemia due to impaired cholesterol esterification. This genetic disorder affects lipoproteins and can lead to kidney failure.

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Area of Science:

  • Biochemistry
  • Genetics
  • Nephrology

Background:

  • Familial lecithin: cholesterol acyltransferase (LCAT) deficiency is an inherited disorder.
  • It presents with corneal opacities, anemia, and proteinuria, stemming from LCAT's inability to esterify plasma cholesterol.
  • This dysfunction leads to significant lipoprotein abnormalities and can progress to renal failure.

Purpose of the Study:

  • To summarize the clinical and biochemical characteristics of familial LCAT deficiency.
  • To highlight the role of LCAT in cholesterol metabolism and lipoprotein structure.
  • To discuss recent advances in understanding the molecular basis of LCAT deficiency and related conditions like fish eye disease.

Main Methods:

  • Review of existing literature on familial LCAT deficiency and fish eye disease.
  • Analysis of clinical presentations and biochemical findings in affected individuals.
  • Examination of LCAT gene cloning and molecular defect identification.

Main Results:

  • LCAT deficiency results in characteristic corneal opacities, anemia, and proteinuria.
  • Severe abnormalities in lipoprotein composition, shape, distribution, and concentration are observed.
  • Fish eye disease shares corneal opacities and lipoprotein abnormalities due to LCAT deficiency.
  • Molecular defects underlying familial LCAT deficiency and fish eye disease have been identified following LCAT gene cloning.

Conclusions:

  • Familial LCAT deficiency is a significant inherited condition impacting cholesterol metabolism and organ health.
  • LCAT plays a critical role in maintaining normal plasma lipoprotein profiles.
  • Recent genetic discoveries offer insights into the molecular pathology of LCAT deficiency and related disorders.

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