Medical Dictionary

abetalipoproteinemia

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noun abe·ta·li·po·pro·tein·emia \ˌā-ˌbā-tə-ˌlī-pə-ˌprō-tē-ˈnē-mē-ə, -ˌli-pə-, -ˌprō-tē-ə-ˈnē-, chiefly British -ˌbē-\

Medical Definition of abetalipoproteinemia

  1. :  a rare genetic disorder in which the body is unable to absorb dietary fats and fat-soluble vitamins (such as vitamin A and E) because of an absence of apolipoprotein B-containing lipoproteins (such as chylomicrons and VLDLs) in the blood plasma Abetalipoproteinemia presents initially in the neonatal period with gastrointestinal manifestations related to the malabsorption of fat …—Hélène Puccio and Michel Koenig, in Neurodegenerative Diseases: Neurobiology, Pathogenesis, and Therapeutics, 2005—called also Bassen-Kornzweig syndrome Common symptoms of abetalipoproteinemia include diarrhea, excess fat in the stools, abnormal star-shaped red blood cells, poor muscle coordination, and progressive neurological and retinal deterioration. Abetalipoproteinemia is inherited as an autosomal recessive trait requiring that both parents pass on a copy of the defective gene on a chromosome other than a sex chromosome.


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