Abetalipoproteinemia

Incl. A- beta lipoproteinaemia High-density Lipoproteinmangel hypoalphalipoproteinemia

The abetalipoproteinemia, also Bassen Kornzweig syndrome or acanthocytosis called, is a hypolipoproteinemia.

It is a rare lipid metabolism disorder. These chylomicrons are greatly reduced in the blood plasma ( lipoprotein ), VLDL, IDL and LDL. Cause a mutation in a gene locus on chromosome 4 q22 - q24 located gene encoding a subunit of microsomal triglyceride transfer protein (MTP ). This leads to a rapid catabolism of apolipoproteins ( apoB ). The apoB gene is not affected. The Abetalipoproteinemia is inherited as an autosomal recessive trait.

Symptoms of this very rare disease ( also orphan disease ) is a malabsorption syndrome, pigmentary degeneration of the retina and progressive ataxic neuropathy.