abetalipoproteinemia

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- How to pronounce abetalipoproteinemia (audio) \

Medical Definition of abetalipoproteinemia

: 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

Note: 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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