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J Clin Lipidol. 2011 Nov-Dec;5(6):493-9. doi: 10.1016/j.jacl.2011.07.002. Epub 2011 Aug 23.

Homozygous lecithin:cholesterol acyltransferase (LCAT) deficiency due to a new loss of function mutation and review of the literature.

Author information

1
Joslin Diabetes Center, Harvard Medical School, Boston, MA, USA.

Abstract

BACKGROUND:

A case of homozygous familial lecithin:cholesterol acyltransferase (LCAT) deficiency with a novel homozygous LCAT missense mutation (replacement of methionine by arginine at position 293 in the amino acid sequence of the LCAT protein) is reported.

METHODS AND RESULTS:

The probable diagnosis was suggested by findings of marked high density lipoprotein (HDL) deficiency, corneal opacification, anemia, and renal insufficiency. The diagnosis was confirmed by two dimensional gel electrophoresis of HDL, the measurement of free and esterified cholesterol, and sequencing of the LCAT gene.

CONCLUSIONS:

In our view the most important aspects of therapy to prevent the kidney disease that these patients develop is careful control of blood pressure and lifestyle measures to optimize non HDL lipoproteins. In the future replacement therapy by gene transfer or other methods may become available.

PMID:
22108153
PMCID:
PMC4565181
DOI:
10.1016/j.jacl.2011.07.002
[Indexed for MEDLINE]
Free PMC Article

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