Norum disease is an autosomal recessive disorder caused by mutations of the LCAT gene. Common symptoms are corneal opacities, hemolytic anemia, and xanthoma cells in the bone marrow. Typical laboratory findings include hight triglyceride, phospholipid, and cholesterol levels, often accompanied by proteinuria.
Biochemically the Norum-disease is characterized by a complete deficiency of the LCAT enzyme, which includes both the function activated by ApoA1 and directed to the HDL particles and the function at the large ApoB containing lipoprotein particles.
Therapy of LCAT deficiency includes cholestrol restricted diet, blood transfusions where necessary, and liver transplantation.
|Familial partial lipodystrophy type 2|
|Focal, segmental glomerulosclerosis (FSGS)|
|Glycogen storage disease 1A|
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OMIM.ORG articleOmim 245900
Wikipedia articleWikipedia EN (Lecithin_cholesterol_acyltransferase_deficiency)