Human pathology

Home page > E. Pathology by systems > Digestive system > Small intestine > chylomicron retention disease

chylomicron retention disease

MIM.607689 MIM.246700 5q31.1

Image Gallery

Chylomicron retention disease (Duodenal endoscopy) Chylomicron retention disease (Duodenal endoscopy) Chylomicron retention disease (Duodenal endoscopy) Chylomicron retention disease (Duodenal endoscopy)
Lipid transport defect of intestine, Anderson disease, CMRD

Etiology

- mutation in the SARA2 gene (MIM.607690).

Differential diagnosis

- abetalipoproteinemia (MIM.200100)

  • no acanthocytosis nor neuroocular symptoms occur
  • low-density lipoproteins are present in the plasma

Keywords