abetalipoproteinemia


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Abetalipoproteinemia (ABL; OMIM 200100) is a very rare autosomal recessive disorder of lipoprotein metabolism in which sequence variations in the microsomal triglyceride transfer protein (MTP) gene lead to virtually undetectable plasma concentrations of apoB-containing lipoproteins.
Oxidative stress in abetalipoproteinemia patients receiving long-term vitamin E and vitamin A supplementation.
Primary causes include abetalipoproteinemia (ABL; OMIM 200100), chylomicron retention disease (OMIM 246700), and FHBL (20).
Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia.
Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.