Bassen-Kornzweig Syndrome (Abetalipoproteinaemia)

In this condition, retinitis pigmentosa is accompanied by progressive neurological problems, abnormal red blood cells (acanthocytosis) and defective bowl absorption of fat, leading to very low blood levels of cholesterol and absent beta lipoprotein (Abetalipoproteinaemia).

Microsomal triglyceride transfer protein (MTP) has been identified as the cause of Bassen-Kornzweig syndrome. Abnormalities in this substance, MTP, cause the body to mismanage fat.

Further detailed information on Bassen-Kornzweig syndrome (Abetalipoproteinaemia) is available from: https://rarediseases.org/rare-diseases/abetalipoproteinemia/