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单词 Abetalipoproteinaemia
释义

Abetalipoproteinaemia

英语百科

Abetalipoproteinemia

(重定向自Abetalipoproteinaemia)
Acanthocytosis in a patient with abetalipoproteinemia.
Abetalipoproteinemia has an autosomal recessive pattern of inheritance.

Abetalipoproteinemia, or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food. It is caused by a mutation in microsomal triglyceride transfer protein resulting in deficiencies in the apolipoproteins B-48 and B-100, which are used in the synthesis and exportation of chylomicrons and VLDL respectively. It is not to be confused with familial dysbetalipoproteinemia.

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