Chylomicron retention disease

Chylomicron retention disease is a rare disorder of fat absorption. It is associated with the gene SAR1B, and mutations in that gene prevent chylomicrons, the particles that carry dietary fat, from being released into the circulation. This leads to nutritional and developmental problems. The disorder is autosomal recessive, with around 40 cases reported worldwide, and because the disease allele is recessive the parents of an affected child usually show no symptoms. Without functional chylomicrons, fat-soluble vitamins such as vitamin D and vitamin E cannot be absorbed properly. Chylomicrons play a crucial role in the absorption and transport of fat, so a deficiency in their function reduces the available levels of dietary fats and fat-soluble vitamins.