Chylomicron retention disease

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Rim Halaby, M.D. [2]

Synonyms and keywords: Anderson disease, lipid transport defect of intestine, hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells

Overview

Chylomicron retention disease is an autosomal recessive hypolipoproteinemia disease. Chylomicron retention disease is a very rare condition that is caused by a mutation in SAR1B gene located on chromosome 5q31.1 leading to deficiency in the secretion of apolipoprotein B from enterocytes. While the synthesis chylomicron synthesis is totally affected, VLDL synthesis is intact.