abetalipoproteinaemiaabetalipoproteinemian.
/eɪˌbiːtəlʌɪpə(ʊ)ˌprəʊtiːˈniːmɪə/, /eɪˌbiːtəlɪpə(ʊ)ˌprəʊtiːˈniːmɪə/, U.S. /eɪˌbeɪdəlɪpəˌproʊˌtiˈnimiə/ 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).
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the world > health and disease > ill health > a disease > disorders of internal organs > disorders of blood > [noun] > other blood disorders
diacrisis1684
melanaema1788
mal-crasis1854
saturation1872
myeloid metaplasia1931
abetalipoproteinaemia1960
acanthocytosis1960
myelodysplasia1966
1960 H. B. Salt et al. in Lancet 13 Aug. 325/1 (title) On having no beta-lipoprotein: a syndrome comprising a-beta-lipoproteinæmia, acanthocytosis, and steatorrhœa.
1990 Health Now July 16/1 The most serious cases of [vitamin E] deficiency occur in patients with fat malabsorption illness, for example cystic fibrosis and abetalipoproteinaemia.
2003 Y. Yawata Cell Membrane xiii. 252 Acanthocytosis was initially described in abetalipoproteinemia, and subsequently in severe liver disease..and other conditions.
This is a new entry (OED Third Edition, December 2011; most recently modified version published online December 2021).
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n.1960