abetalipoproteinemia definition
Freebase(0.00 / 0 votes)Rate this definition: 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. Summary Summary. Abetalipoproteinemia is a condition characterized by the inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins. Signs and symptoms appear in the first few months of life and can include failure to thrive; diarrhea; acanthocytosis; and stool abnormalities. The easiest way to lookup drug information, identify pills, check interactions and set up your own personal medication records. Available for Android and iOS devices. Drugs.com provides accurate and independent information on more than 24,000 prescription drugs, over-the-counter medicines and natural products. This material is provided for educational purposes only and is not intended for medical advice, diagnosis or treatment. Data sources include Micromedex® (updated Mar 2nd, 2017), Cerner Multum™ (updated Mar 2nd, 2017), Wolters Kluwer™ (updated Mar 1st, 2017) and others. [a-ba″tah-lip″o-pro″te-ne´me-ah] a rare autosomal recessive syndrome marked by a lack of low-density lipoproteins (β-lipoproteins) in the blood and by acanthocytosis, hypercholesterolemia, progressive ataxic neuropathy, atypical retinitis pigmentosa involving the macula, and malabsorption. : 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 ... Princeton's WordNet(0.00 / 0 votes)Rate this definition: abetalipoproteinemia(noun) a rare inherited disorder of fat metabolism; characterized by severe deficiency of beta-lipoproteins and abnormal red blood cells (acanthocytes) and abnormally low cholesterol levels. noun, Pathology. 1. a rare inherited disorder of fat metabolism due to an inability to synthesize certain apolipoproteins necessary for the transport of triglycerides, leading to diarrhea, steatorrhea, and failure to thrive. Origin of abetalipoproteinemia. a group of rare inherited disorders of fat metabolism, characterized by the absence of apoprotein B-100 and manifested by acanthocytosis, low or absent serum beta-lipoprotein levels, and hypocholesterolemia. In severe cases, steatorrhea, ataxia, nystagmus, motor incoordination, and retinitis pigmentosa occur. (usually uncountable, plural abetalipoproteinemias) A rare autosomal recessive disorder that interferes with the normal absorption of fat and fat-soluble vitamins from food. Freebase(0.00 / 0 votes)Rate this definition: Abetalipoproteinemia. 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.
A condition characterized by the inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins.