abetalipoproteinemia (DOID:1386)
Alliance: disease page
Synonyms: familial hypobetalipoproteinemia; microsomal triglyceride transfer protein deficiency disease
Alt IDs: OMIM:200100, ICD10CM:E78.6, MESH:D000012, NCI:C84525, UMLS_CUI:C0000744
Definition: A hypolipoproteinemia that is characterized by an inablility 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.