Abetalipoproteinemia

Abetalipoproteinemia, also known as Bassen-Kornzweig syndrome, is a rare inherited disorder characterized by abnormal absorption of fat and fat-soluble vitamins from food. It results from mutations in the microsomal triglyceride transfer protein (MTTP) gene, which prevents normal synthesis of chylomicrons and very-low-density lipoproteins needed for dietary fat absorption. It follows an autosomal recessive inheritance pattern. Initial presentation in infancy includes failure to thrive, fatty stools and acanthocytosis, with progressive neurological symptoms such as ataxia developing later. The disease is extremely rare, with about 100 documented cases worldwide since its discovery in 1950.