title: Homozygous lecithin:cholesterol acyltransferase (LCAT) deficiency due to a new loss of function mutation and review of the literature.
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.
  
  
  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.
authors: Joslin Diabetes Center, Harvard Medical School, Boston, MA, USA.
authors: Bijan
authors: B
authors: Roshan
authors: Om P
authors: OP
authors: Ganda
authors: Ranil
authors: R
authors: Desilva
authors: Rose B
authors: RB
authors: Ganim
authors: Edmund
authors: E
authors: Ward
authors: Sarah D
authors: SD
authors: Haessler
authors: Eliana Y
authors: EY
authors: Polisecki
authors: Bela F
authors: BF
authors: Asztalos
authors: Ernst J
authors: EJ
authors: Schaefer
mesh_terms: D000595:Amino Acid Sequence; D016632:Apolipoprotein A-I / Q000097:blood; D002784:Cholesterol / Q000097:blood; D003318:Corneal Opacity / Q000235:genetics / Q000378:metabolism; D015180:Electrophoresis, Gel, Two-Dimensional; D006720:Homozygote; D006801:Humans; D015151:Immunoblotting; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000097:blood / Q000235:genetics* / Q000378:metabolism; D008075:Lipoproteins, HDL / Q000097:blood; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D007862:Phosphatidylcholine-Sterol O-Acyltransferase / Q000097:blood / Q000235:genetics / Q000378:metabolism*; D011507:Proteinuria / Q000235:genetics / Q000378:metabolism; D017422:Sequence Analysis, DNA
chemical_list: D016632:Apolipoprotein A-I; D008075:Lipoproteins, HDL; D002784:Cholesterol; D007862:Phosphatidylcholine-Sterol O-Acyltransferase