abetalipoproteinemia

A hypolipoproteinemia that is characterized by an inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal trig

A hypolipoproteinemia that is characterized by an inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS.

Signs and symptoms

• Fat malabsorption
• Peripheral demyelination
• Acanthocytosis
• Ataxia
• Retinal degeneration
• Retinopathy
• CNS demyelination

Also known as: familial hypobetalipoproteinemia; microsomal triglyceride transfer protein deficiency disease