Abetalipoproteinemia

Abetalipoproteinemia is a rare, autosomal recessive disorder in which the body is unable to absorb fats and fat-soluble vitamins from the diet. It typically presents in early childhood with steatorrhea (fatty feces), abdominal distension, and failure to thrive. Later on, it may progress to peripheral neuropathy, and vision impairment, especially night blindness. The diagnosis of Abetalipoproteinemia involves clinical findings and serum lipid analysis. The treatment focuses on limiting fat-rich diets, and supplementation of fat-soluble vitamins.