Term Name: abetalipoproteinemia
Synonyms: familial hypobetalipoproteinemia, microsomal triglyceride transfer protein deficiency disease
Definition: 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.
Ontology: Human Disease [DOID:1386]   ( DOID:1386 )

Relationships
is a type of: autosomal recessive disease hypolipoproteinemia