Disease or Syndrome
abetalipoproteinemia
[ ey-bey-tuh-lip-uh-proh-tee-nee-mee-uh, -tee-uh-nee-, -lahy-puh-, ey-bee- ]
Subclass of:
Hypobetalipoproteinemias
Definitions related to abetalipoproteinemia:
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Abetalipoproteinemia typically presents in infancy with failure to thrive, diarrhea, vomiting, and malabsorption of fat. Hematologic manifestations may include acanthocytosis (irregularly spiculated erythrocytes), anemia, reticulocytosis, and hemolysis with resultant hyperbilirubinemia. Malabsorption of fat-soluble vitamins (A, D, E, and K) can result in an increased international normalized ratio (INR). Untreated individuals may develop atypical pigmentation of the retina that may present with progressive loss of night vision and/or color vision in adulthood. Neuromuscular findings in untreated individuals including progressive loss of deep tendon reflexes, vibratory sense, and proprioception; muscle weakness; dysarthria; and ataxia typically manifest in the first or second decades of life.GeneReviewsUniversity of Washington, 2021
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An absence of low-density lipoprotein cholesterol in the blood.Human Phenotype Ontology (HPO)The Human Phenotype Ontology Project, 2021
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An autosomal recessive disorder characterized by defective absorption of dietary fat, cholesterol and fat-soluble vitamins. It results in multiple vitamin deficiencies. Signs and symptoms include failure to thrive, diarrhea, steatorrhea, acanthocytosis and ataxia.NCI ThesaurusU.S. National Cancer Institute, 2021
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An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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Disorder of lipid metabolism inherited as an autosomal recessive trait characterized by the near absence of apolipoprotein B and apoB containing lipoproteins in plasma; microsomal triglyceride transfer protein is deficient or absent in enterocytes; clinical and laboratory findings include acanthocytosis, hypocholesterolemia, peripheral neuropathy, posterior column degeneration, ataxia, and steatorrhea; intellectual abilities may also be impaired.CRISP ThesaurusNational Institutes of Health, 2006
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Abetalipoproteinemia is a very rare condition that affects fat and vitamin absorption by the intestines and liver, leading to very low LDL-cholesterol and malnutrition. Early symptoms of this condition include diarrhea, vomiting, and poor growth. Without treatment, later complications may include muscle weakness, poor night and color...National Center for Advancing Translational Sciences
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Abetalipoproteinemia is a rare, inherited, autosomal-recessive disorder resulting from a microsomal triglyceride transfer protein deficiency. As a result, cellular fat transport is disrupted, causing symptoms of fat malabsorption (i.e., steatorrhea, diarrhea) and eventual wasting, which often present by infancy or childhood. Fats,...Athenahealth, Inc., 2019
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