Hereditary Lecithin- Cholesterol Acyltransferase (LCAT) Deficiency is a rare disorder that causes a dyslipidemia.
LCAT is an enzyme in the plasma that esterifies cholesterol and is involved in the metabolism of high-density lipoprotein (HDL) cholesterol.
Chromosome location: 16q22.1
Inheritance: autosomal recessive
Clinical features:
(1) nephropathy which may include the nephrotic syndrome
(2) corneal opacity
(3) variable splenomegaly
Laboratory findings:
(1) decreased plasma HDL-cholesterol
(2) presence of lipoprotein X
(3) normochromic, normocytic anemia with target cells and stomatocytes
(4) proteinuria
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Specialty: Genetics, Clinical Laboratory
