Chanarin-Dorfman Syndrome is a rare condition with accumulation of triglyceride droplets in multiple organs.
Inheritance: autosomal recessive
Gene: ABHD5 (abhydrolase domain containing 5,lysophosphatidic acyltransferase), also known as CG1-58
Effect: defect in lipolysis, with accumulation of long-chain fatty acids (triacylglycerol)
(1) congenital non-bullous ichthyosiform erythroderma (NCIE)
(2) Jordans' anomaly (lipid droplets in the cytoplasm of granulocytes)
(3) lipid droplets in the cells of multiple organs
(4) non-alcoholic fatty liver disease (NAFLD) which may progress to cirrhosis
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