Definition of abetalipoproteinaemia in English:

abetalipoproteinaemia

noun

(also a-β-lipoproteinaemia)
Medicine
  • A rare inherited (autosomal recessive) disorder characterized by absence of certain types of lipoprotein from the blood, malabsorption of fat and fat-soluble vitamins, and acanthocytosis, often with retinal and neuromuscular abnormalities.

    Abetalipoproteinaemia results from mutations in the gene coding for microsomal triglyceride transfer protein, which is necessary for the assembly of lipoproteins containing apolipoprotein B (which include chylomicrons and low- and very-low-density lipoprotein).

Pronunciation

abetalipoproteinaemia

/eɪˌbiːtəlʌɪpə(ʊ)ˌprəʊtiːˈniːmɪə/ /eɪˌbiːtəlɪpə(ʊ)ˌprəʊtiːˈniːmɪə/

Origin

1960s. From a- + beta + lipoprotein + -aemia.