abetalipoproteinaemia


a·be·ta·lip·o·pro·tein·e·mi·a

(ā-bā'tă-lip'ō-prō'tē-nē'mē-ă) A disorder characterized by an absence from plasma of low density lipoproteins that migrate electrophoretically as beta globulins, the presence of acanthocytes in the blood, retinal pigmentary degeneration, malabsorption, engorgement of upper intestinal absorptive cells with dietary triglycerides, and neuromuscular abnormalities; autosomal recessive inheritance.
Synonym(s): Bassen-Kornzweig syndrome, abetalipoproteinaemia. [G. a-, priv., + β, + lipoprotein + -emia, blood]

abetalipoproteinaemia

A rare AUTOSOMAL RECESSIVE inherited disorder due to a mutation on chromosome 4 causing failure to synthesize the substance apolipoprotein B (beta-lipoprotein) present in LOW DENSITY LIPOPROTEINS (LDLs). Cholesterol, fats (triglycerides), lipoproteins and CHYLOMICRONS are almost absent from the blood and there is a consequent impairment of fat supply and of the transport of the fat-soluble vitamins. The result is failure to thrive, neurological abnormalities probably from vitamin deficiency, impairment of vision from retinal degeneration, and usually death before the age of 40. The condition is almost confined to Ashkenazi Jews.

a·be·ta·lip·o·pro·tein·e·mi·a

(ā-bā'tă-lip'ō-prō'tē-nē'mē-ă) [MIM*200100] 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.
Synonym(s): abetalipoproteinaemia. [G. a-, priv., + β, + lipoprotein + -emia, blood]