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单词 abetalipoproteinaemia
释义

abetalipoproteinaemia

/eɪˌbiːtəlʌɪpə(ʊ)ˌprəʊtiːˈniːmɪə/ /eɪˌbiːtəlɪpə(ʊ)ˌprəʊtiːˈniːmɪə/
(also a-β-lipoproteinaemia, abetalipoproteinemia) Medicine
noun
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)..

Origin

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

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更新时间:2024/12/23 17:03:59