abetalipoproteinemia
A disorder characterized by an absence of low-density beta-lipoprotein, presence of acanthocytes in blood, retinal pigmentary degeneration, malabsorption, engorgement of upper intestinal absorptive cells with dietary triglycerides, and neuromuscular abnormalities; autosomal recessive inheritance, caused by mutation in the gene encoding microsomal triglyceride transfer protein (MTP) on chromosome 4q. SYN: Bassen-Kornzweig syndrome. [G. a-, priv., + β, + lipoprotein + -emia, blood]
- normotriglyceridemic a. a. with normal levels of triglycerides. This inherited disorder (possibly autosomal recessive) is probably due to the absence of apolipoprotein B-100.

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abeta·lipo·pro·tein·emia (a-ba″tə-lip″o-pro″te-neґme-ə) an autosomal recessive disorder of lipoprotein metabolism (gene locus: 4q22-q24) in which lipoproteins containing apolipoprotein B (chylomicrons, very-low-density lipoproteins, and low-density lipoproteins) are not synthesized; it is characterized by acanthocytes in plasma, hypocholesterolemia, progressive ataxic neuropathy, pigmentary retinal degeneration, defective intestinal lipid absorption, and deficiency of fat-soluble vitamins.

Medical dictionary. 2011.

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  • abetalipoproteinemia — Eng. Abetalipoproteinemia Ver acantocitosis …   Diccionario de oftalmología

  • Abetalipoproteinemia — La Abetalipoproteinemia es una rara enfermedad que afecta al tracto digestivo, cuya principal característica es la incapacidad que tiene el organismo de absorber adecuadamente los componentes grasos del alimento a través del intestino, lo que… …   Enciclopedia Universal

  • abetalipoproteinemia — /ay bay teuh lip euh proh tee nee mee euh, tee euh nee , luy peuh , ay bee /, n. Pathol. a rare inherited disorder of fat metabolism due to an inability to synthesize betalipoproteins necessary for the transport of triglycerides, leading to… …   Universalium

  • 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 • Hypernyms: ↑hypobetalipoproteinemia, ↑lipidosis,… …   Useful english dictionary

  • normotriglyceridemic abetalipoproteinemia — a variant of abetalipoproteinemia in which apolipoprotein (apo) B 48 is present, but apo B 100 is absent; chylomicrons are formed but low density lipoproteins are not, and some fat absorption may occur …   Medical dictionary

  • Bassen-Kornzweig syndrome — abetalipoproteinemia …   Medical dictionary

  • Microsomal triglyceride transfer protein — Identifiers Symbols MTTP; ABL; MGC149819; MGC149820; MTP External IDs …   Wikipedia

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