KEGG   DISEASE: Lecithin:cholesterol acyltransferase deficiency
Entry
H00158                      Disease                                
Name
Lecithin:cholesterol acyltransferase deficiency;
Norum disease;
Fish-eye disease
  Supergrp
Hypoalphalipoproteinemia [DS:H00930]
Description
Lecithin:cholesterol acyltransferase (LCAT) deficiency is an autosomal recessive disorder of HDL metabolism characterized by low HDL-cholesterol level in blood and accumulation of free cholesterol in tissue leading to a triad of corneal dystrophy, hemolytic anemia, and proteinuria.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of lipoprotein metabolism or certain specified lipidaemias
    5C81  Hypolipoproteinaemia
     H00158  Lecithin:cholesterol acyltransferase deficiency
Pathway
hsa04979  Cholesterol metabolism
hsa00564  Glycerophospholipid metabolism
Gene
LCAT [HSA:3931] [KO:K00650]
Other DBs
ICD-11: 5C81.Y
MeSH: D007863
OMIM: 245900 136120
Reference
PMID:16709953
  Authors
Berglund L
  Title
Lipoprotein metabolism: a well-tried tool to characterize dyslipidemic mechanisms.
  Journal
Arterioscler Thromb Vasc Biol 26:1201-3 (2006)
DOI:10.1161/01.ATV.0000217281.06795.61
Reference
PMID:16543491
  Authors
Nishiwaki M, Ikewaki K, Bader G, Nazih H, Hannuksela M, Remaley AT, Shamburek RD, Brewer HB Jr
  Title
Human lecithin:cholesterol acyltransferase deficiency: in vivo kinetics of low-density lipoprotein and lipoprotein-X.
  Journal
Arterioscler Thromb Vasc Biol 26:1370-5 (2006)
DOI:10.1161/01.ATV.0000217910.90210.99
Reference
PMID:9162740
  Authors
Kuivenhoven JA, Pritchard H, Hill J, Frohlich J, Assmann G, Kastelein J
  Title
The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes.
  Journal
J Lipid Res 38:191-205 (1997)
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