Abetalipoproteinemia



a rare inherited disorder of fat metabolism due to an inability to synthesize betalipoproteins necessary for the transport of triglycerides, leading to diarrhea, steatorrhea, and failure to thrive.

abetalipoproteinemia a·be·ta·lip·o·pro·tein·e·mi·a (ā-bā’tə-lĭp’ō-prō’tē-nē’mē-ə, -tē-ə-nē’-)
n.
An inherited disorder characterized by the absence of low-density lipoproteins in the plasma, the presence of acanthocytes in the blood, retinal pigmentary degeneration, malabsorption of fats, and neuromuscular abnormalities. Also called Bassen-Kornzweig syndrome.

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