LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY

Question 1

What is  LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY?

Accepted Answer

rare
autosomal recessive
mutation in the lecithin:cholesterol acyltransferase gene
- familial LCAT deficiency (FLD)
- fish-eye disease (FED), partial LCAT deficiency, milder phenotype

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Lecitin-Cholesterin-Acyltransferase-Mangel; LCAT-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 245900

Question 4

Which enzymes are involved?

Accepted Answer

Phosphatidylcholine-sterol acyltransferase

Disease	LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
Synonym	NORUM DISEASE, LCAT
OMIM	245900 OMIM = Online Mendelian Inheritance of Men
Orphanet	650
Protein (UniProt)	Phosphatidylcholine-sterol acyltransferase
ExPASy	2.3.1.43
Gene locus	16q22.1
ICD	E78.6
Summary	rare autosomal recessive mutation in the lecithin:cholesterol acyltransferase gene - familial LCAT deficiency (FLD) - fish-eye disease (FED), partial LCAT deficiency, milder phenotype
Laboratory findings	Cholesterol inc (serum) HDL-Cholesterol dec (plasma) Protein inc (urine) Triglycerides inc (plasma)
Symptoms	anemia corneal arcus corneal clouding corneal deposits onset, adolescent onset, childhood onset, infancy proteinuria renal failure, acute/chronic