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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
abetalipoproteinemia
Summary
- Synonym
-
- familial hypobetalipoproteinemia
- microsomal triglyceride transfer protein deficiency disease
- 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.
- Super Class
- autosomal recessive disease hypolipoproteinemia
