abetalipoproteinemia

Pronunciation: ā - bā′tă - lip′ō - prō′tēn - ē′mē - ă

Definition: A disorder characterized by an absence of low-density β-lipoprotein, presence of acanthocytes in blood, retinal pigmentary degeneration, malabsorption, engorgement of upper intestinal absorptive cells with dietary triglycerides, and neuromuscular abnormalities; autosomal recessive inheritance, caused by mutation in the gene-encoding microsomal triglyceride transfer protein (MTP) on chromosome 4q.

Synonym(s): Bassen-Kornzweig syndrome

[G. a-, priv., + β, + lipoprotein + -emia, blood]

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