Humpath.com - Human pathology

Home > D. General pathology > abetalipoproteinemia

abetalipoproteinemia

Monday 19 June 2017

Bassen-Kornzweig syndrome

WKP

Abetalipoproteinemia is a rare autosomal recessive disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food.

It is caused by a mutation in microsomal triglyceride transfer protein resulting in deficiencies in the apolipoproteins B-48 and B-100, which are used in the synthesis and exportation of chylomicrons and VLDL respectively. It is not to be confused with familial dysbetalipoproteinemia.

Mutations in the microsomal triglyceride transfer protein (MTTP) gene has been associated with this condition. (Apolipoprotein B deficiency, a related condition, is associated with deficiencies of apolipoprotein B.)

Morphological anomalies

- lipidization of amnion epithelium