<unk>  has an autosomal recessive pattern of inheritance. 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.) The MTTP gene provides instructions for making a protein called microsomal triglyceride transfer protein, which is essential for creating beta-lipoproteins. These lipoproteins are both necessary for the absorption of fats, cholesterol, and fat-soluble vitamins from the diet and necessary for the efficient transport of these substances in the bloodstream. Most of the mutations in this gene lead to the production of an abnormally short microsomal triglyceride transfer protein, which prevents the normal creation of beta-lipoproteins in the body. MTTP-associated mutations are inherited in an autosomal recessive pattern, which means both copies of the gene must be faulty to produce the disease. The disease is extremely rare with approximately 100 reported cases worldwide since it was first identified by doctors Bassen and Kornzweig in 1950.
Abetalipoproteinemia
Hypobetalipoproteinemia
Hypoalphalipoproteinemia
Familial dysbetalipoproteinemia
D-Glyceric acidemia
Lipoatrophic diabetes
Familial hypertriglyceridemia
Pipecolic acidemia