Term Name: | abetalipoproteinemia |
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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 ) |